Inventory of Rare Disease Registries

About

This inventory includes rare disease registries available in Canada (excluding cancer-related diseases), displaying key information to help patients, families, caregivers and researchers with enrollment, recruitment and data access. Read our data dictionary for variable definitions.

Filters

Type of registry Type of enrollment Age groups included Recruitment Status Type of data collected in the registry Available in French

Columns

Search by rare disease Search by registry

Showing 394 registries Updated 2026-09-21 10:58:03


Fighting Blindness Canada's Patient Registry	FBC Patient Registry	Retinitis pigmentosa Stargardt disease Usher syndrome Leber congenital amaurosis Bardet-Biedl syndrome Choroideremia Coats Disease Leber hereditary optic neuropathy X-linked retinoschisis Alstrom Syndrome Refsum disease Achromatopsia Optic neuritis	Not available	Disease registry	No	2004	Active	2004-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Ontario Prince Edward Island Quebec Saskatchewan Yukon	The Hospital for Sick Children	Toronto, ON, CA	healthinfo@fightingblindness.ca	No	Not available	www.fightingblindness.ca
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay International Patient Registry	ARSACS international Patient Registry	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Not available	Disease registry	No	2006	Active	2006-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	38	Yes	Quebec	La Fondation de l'Ataxie Charlevoix-Saguenay	Montreal, QC, CA	ataxie@arsacs.com	Unknown	Not available	arsacs.com
BC Glomerulonephritis Registry	BC GN Registry	IgA nephropathy Alport syndrome light-chain amyloidosis Anti-glomerular basement membrane disease IC-membranoproliferative glomerulonephritis / C3 glomerulopathy Fabry disease Immunoglobulin A vasculitis Membranous nephropathy ANCA-associated vasculitis AA amyloidosis Dense deposit disease Hereditary steroid-resistant nephrotic syndrome Idiopathic nephrotic syndrome	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Genetic Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	Regional	Not available	Yes	British Columbia	BC GN Network	Langley, BC, CA	bcrenal@bcrenal.ca	Unknown	Not available	www.bcrenal.ca
Canadian Registry for Rare Systemic Autoinflammatory Diseases Registry	CAN-SAID Registry	Periodic Fever Syndrome PFAPA syndrome Unexplained periodic fever syndrome Chronic recurrent multifocal osteomyelitis	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Genetic Diseases Rheumatological Diseases Immunological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	Regional	Not available	Yes	Alberta British Columbia Ontario Quebec	BC Children's Hospital	Vancouver, BC, CA	Lori Tucker, ltucker@cw.bc.ca	Unknown	info@cassieandfriends.ca	cassieandfriends.ca
Canadian Apheresis Group Thrombotic thrombocytopenic purpura Registry	CAG TTP Registry	Thrombotic thrombocytopenic purpura	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Hematological Diseases Renal and Urological Diseases	Unknown	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Canadian Apheresis Group	Vanier, ON, CA	cag@cagcanada.ca	Unknown	www.cagcanada.ca	www.cagcanada.ca
Canadian Biliary Atresia Registry	CBAR	Biliary atresia	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Developmental anomalies during embryogenesis Gastroenterological Diseases	Unknown	Children Adolescents	over 100	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Newfoundland and Labrador Nova Scotia Ontario Quebec	BC Children's Hospital, Montreal Children's Hospital	Vanier, ON, CA & Montreal, QC, CA	Elena Guadagno, elena.guadagno@muhc.mcgill.ca	No	Not available	cbar.ca
Canadian Cystic Fibrosis Registry/ Registre canadien sur la fibrose kystique	CCRF	Cystic fibrosis	Not available	Disease registry	No	1970	Active	1970-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Respiratory Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	4609	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Cystic Fibrosis Canada	Toronto, ON, CA	cfregistry@cysticfibrosis.ca	Yes	cfregistry@cysticfibrosis.ca	cfregistry@cysticfibrosis.ca
Canadian Fabry Disease Initiative National Registry	CFDI-NR	Fabry disease	NCT00455104	Disease registry	Yes	2007	Active	2007-2029	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	600	Caregiver data (e.g., Family history) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Canadian Fabry Disease Initiative Scientific Consortium	Thunder Bay, ON, CA	Kaye.lemoine@nshealth.ca	Yes	heather.nadeau@nshealth.ca	www.fabrycanada.com
Canadian Morphea Registry	C-MORE Registry	Localized scleroderma (Morphea) Eosinophilic fasciitis	Not available	Disease registry	Yes	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases Rheumatological Diseases Skin Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	220	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia New Brunswick Nova Scotia Ontario Quebec Saskatchewan	Montreal General hospital	Montreal, QC, CA	info@morphearegistry.ca	Yes	info@morphearegistry.ca	morphearegistry.ca
Canadian Neuromuscular Disease Registry	CNDR	Amyotrophic lateral sclerosis Congenital Myasthenic Syndromes Limb-girdle muscular dystrophy Duchenne muscular dystrophy Facioscapulohumeral dystrophy Myotonic Dystrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 (SMA I) Proximal spinal muscular atrophy type 2 (SMA II) Proximal spinal muscular atrophy type 3 (SMA III) Proximal spinal muscular atrophy type 4 Spinal muscular atrophy with respiratory distress type 1 (SMARD I)	Not available	Disease registry	No	2010	Active	2010-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	6 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	University of Calgary	Calgary, AB, CA	www.cndr.org	Yes	cndradmin@ucalgary.ca	cndr.org
Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada registry	FH Canada	Familial chylomicronemia syndrome Lecithincholesterol Acyltransferase (LCAT) Deficiency Tangier disease Sitosterolemia Familial hypercholesterolemia, Homozygous familial hypercholesterolemia Niemann-Pick Type C Niemann-Pick Disease Dysbetalipoproteinemia Apolipoprotein A-I deficiency Wolman disease Cerebrotendinous xanthomatosis Abetalipoproteinemia Chylomicron retention disease	NCT02009345	Disease registry	No	2013	Active	2013-2028	Cardiovascular Diseases Endocrine Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	6000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta Nova Scotia Ontario Quebec	Familial hypercholesterolemia Canada, McGill University of BC	Montreal, QC, CA & Vancouver, BC, CA	isabelle.ruel@mail.mcgill.ca	Unknown	isabelle.ruel@mail.mcgill.ca	clinicaltrials.gov
Canadian Pediatric Neuroinflammatory Disorders Registry	Not available	Pediatric multiple sclerosis Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Acute transverse myelitis Opsoclonus Myoclonus Syndrome acute necrotizing encephalopathy of childhood	Not available	Disease registry	Yes	UNKNOWN	Active	UNKNOWN-UNKNOWN	Infectious Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Rheumatological Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents	230	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Hospital for Sick Children, University of Toronto	Toronto, ON, CA	yeh.team@sickkids.ca	Unknown	yeh.team@sickkids.ca	lab.research.sickkids.ca
Canadian Rett Syndrome Registry	Not available	Rett syndrome	Not available	Disease registry	No	2014	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	ON Rett Syndrome Association	London, ON, CA	registry@rett.ca	Yes	info@rett.ca	canadianrettsyndromeregistry.com
Canadian Scleroderma Research Group	CSRG Registry	Systemic sclerosis Scleroderma Pediatric multiple sclerosis	Not available	Disease registry	Yes	2004	Active	2004-UNKNOWN	Cardiovascular Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases Skin Diseases Reproductive System Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Adults	1753	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Nova Scotia Ontario Quebec	St Joseph's Healthcare Hamilton & Canadian Scleroderma Research Group	Hamilton, ON, CA	Maggie Larché, maggie.larche@ucalgary.ca	Unknown	Stephanie Densmore Farnworth, sdensmor@stjosham.on.ca	www.canadiansclerodermaresearchgroup.org
Discovering the Periodic Fever Syndrome Population at Hamilton Health Sciences	Not available	PFAPA syndrome Deficiency of adenosine deaminase 2 Behcet Disease NLRP3-associated autoinflammatory disease Familial Mediterranean fever	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Allergic Diseases Cardiovascular Diseases Genetic Diseases Hematological Diseases Renal and Urological Diseases Rheumatological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	61	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	Regional	Not available	Not available	Ontario	Hamilton Health Sciences	Hamilton, ON, CA	Liane Heale, healel@mcmaster.ca	Unknown	Liane Heale, healel@mcmaster.ca	Not available
Autosomal dominant polycystic kidney disease Registry	ADPKD Registry	Autosomal dominant polycystic kidney disease	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Genetic Diseases Renal and Urological Diseases	Identified through electronic medical records Referral from healthcare provide(s)	Children Adolescents Adults	1 496	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	Regional	Not available	Yes	British Columbia	University of BC, Providence Health Research	Vancouver, BC, CA	bcrenal@bcrenal.ca	Unknown	bcrenal@bcrenal.ca	www.bcrenal.ca
Genodermatoses Registry	Not available	Ectodermal Dysplasia Ichthyosis Palmoplantar keratoderma	Not available	Disease registry	No	2021	Active	2025-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Skin Diseases	Unknown	Children Adolescents	151	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	Regional	Not available	Not available	Ontario	The Hospital for Sick Children	Toronto, ON, CA	Irene Lara-Corrales, irene.lara-corrales@sickkids.ca	Unknown	Irene Lara-Corrales, irene.lara-corrales@sickkids.ca	Not available
KidCOM registry	Not available	Atypical hemolytic uremic syndrome IC-membranoproliferative glomerulonephritis / C3 glomerulopathy	Not available	Disease registry	No	2003	Active	2003-UNKNOWN	Genetic Diseases Hematological Diseases Renal and Urological Diseases Reproductive System Diseases	Unknown	Children Adolescents Adults	165	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	3	Yes	Alberta British Columbia Ontario Quebec	The Hospital for Sick Children; Nationwide Children's Hospita	Toronto, ON, CA	Christoph Licht, christoph.licht@sickkids.ca	Unknown	Christoph Licht, christoph.licht@sickkids.ca	Not available
MitoCanada Patient Contact Registry	Not available	Leigh syndrome MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) Kearns-Sayre syndrome Pearson syndrome	Not available	Contact registry	Not available	2010	Active	2010-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba Nova Scotia Ontario Quebec	MitoCanada Foundation	Oakville, ON, CA	PatientRegistry@MitoCanada.org	No	Not available	mitocanada.org
National Hearts in Rhythm Organization Registry	HiRO Registry	Long QT syndrome Brugada syndrome Catecholaminergic polymorphic ventricular tachycardiac Short QT syndrome Dilated cardiomyopathy Restrictive cardiomyopathy Unexplained cardiac arrest syndromes	Not available	Disease registry	Yes	2019	Active	2019-UNKNOWN	Cardiovascular Diseases Genetic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	7 150	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba Newfoundland and Labrador Nova Scotia Ontario Quebec	Hearts in Rhythm Organization (HiRO)	Calgary, AB, CA	admin.hiro@ubc.ca	Yes	Simran Deo, sdeo2@providencehealth.bc.ca	hiro.heartsinrhythm.ca
Province of ON Neurodevelopmental Disorders Network OBI: POND Registry	POND Registry	Rett syndrome Down syndrome Fragile X syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Unknown	Children Adolescents Adults	4 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	Regional	Not available	Yes	Ontario	Province of ON Neurodevelopmental Disorders Network	ON, CA	acooper@hollandbloorview.ca	No	Not available	pond-network.ca
Quebec Congenital Heart Disease Registry/ Registre Québécois des maladies cardiaques congénitales	Not available	Tetralogy of Fallot Congenital pulmonary vein atresia	Not available	Disease registry	No	2000	Active	2000-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis	Identified through electronic medical records	Children Adolescents	42 979	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	Regional	Not available	Yes	Quebec	University of Sherbrook	Sherbrook, Qc, CA	Not available	No	Not available	ccpcrn.ca
QC Myotonic Dystrophy Registry/ Registre quebecois sur la dystrophie myotonique de type 1	Q-DMR	Myotonic Dystrophy	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	1 410	Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	Regional	Not available	Yes	Quebec	CIUSSS du Saguenay-Lac-Saint-Jean	Qc, CA	Cynthia Gagnon, cynthia5gagnon@uqac.ca	Unknown	Not available	Not available
SickKids Lupus Registry	Not available	Pediatric systemic lupus erythematosus Secondary hemophagocytic lymphohistiocytosis/ macrophage activation syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Allergic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents	305	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	Regional	Not available	No	Ontario	The Hospital for Sick Children	ON, CA	Linda Hiraki, linda.hiraki@sickkids.ca	Unknown	Not available	Not available
Canadian National Patient Registry for STXBP1	STXBP1.CA	STXBP1-related encephalopathy	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	25	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Dr. Cyrus Boelman, working closely with collaborators, Drs. Jennifer Engle, Danielle Andrade and Cecil Hahn at BC Children	Vancouver, BC, CA	stxbp1.registry@ubc.ca	No	Not available	www.stxbp1.ca
The Canadian Alliance of Pediatric Rheumatology Investigators Juvenile Idiopathic	CAPRI Registry	Oligoarthritis Polyarthritis rheumatoid factor negative Polyarthritis rheumatoid factor positive Enthesitis related arthritis Psoriatic arthritis Systemic arthritis Undifferentiated juvenile arthritis	NCT03245801	Disease registry	No	2017	Active	2017-2026	Ophthalmic Diseases Respiratory Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents	1 238	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	University of British Columbia	Vancouver, BC, CA	Jaime Guzman, jguzman@cw.bc.ca	Yes	jguzman@cw.bc.ca	Not available
The Canadian Bleeding Disorders Registry	CBDR	Hemophilia B Rare hemorrhagic disorder due to a coagulation factors defect von Willebrand disease Hemophilia A Glanzmann thrombasthenia Bernard-Soulier syndrome Bleeding diathesis due to glycoprotein VI deficiency Bleeding disorder due to P2Y12 defect Bleeding diathesis due to thromboxane synthesis deficiency Gray platelet syndrome Quebec platelet disorder Dense granule disease Hermansky-Pudlak syndrome Chediak-Higashi syndrome Alpha delta granule deficiency Wiskott-Aldrich syndrome MYH9-related syndromic thrombocytopenia	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Genetic Diseases Hematological Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s) Unknown	Children Adolescents Adults	10 061	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Association of Hemophilia Clinic Directors of Canada (AHCDC) and SickKids hospital	Ottawa, ON, CA	Alfonso Iorio, iorioa@mcmaster.ca	Yes	Alfonso Iorio, iorioa@mcmaster.ca	www.ahcdc.ca
The Canadian Inherited Marrow Failure Registry	CIMFR	Ataxia-pancytopenia syndrome Barth Syndrome Cartilage-hair hypoplasia Cohen syndrome Congenital amegakaryocytic thrombocytopenia Cyclic neutropenia Diamond-Blackfan Anemia Thrombocytopenia with congenital dyserythropoietic anemia Dyskeratosis congenita Fanconi anemia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Gray platelet syndrome IVIC syndrome Kostmann syndrome Pearson syndrome Reticular dysgenesis Autosomal recessive sideroblastic anemia Shwachman-Diamond Syndrome Thrombocytopenia-absent radius syndrome WT limb-blood syndrome WHIM syndrome Congenital dyserythropoietic anemia	Not available	Disease registry	Yes	2001	Active	2001-UNKNOWN	Allergic Diseases Cardiovascular Diseases Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Skin Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	600	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	The Hospital for Sick Children	Toronto, ON, CA	rinur.mathew@sickkids.ca	Unknown	Bozana Zlateska, cimf.registry@sickkids.ca	www.sickkids.ca
The Canadian Inherited Metabolic Diseases Network	CIMDRN	Phenylketonuria Maple Syrup Urine Disease	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Unknown	Children Adolescents	798	Unknown	National	Not available	Yes	Alberta British Columbia Manitoba Newfoundland and Labrador Nova Scotia Ontario Quebec	Canadian Inherited Metabolic Diseases Research Network	Ottawa, ON, CA	informrare@uottawa.ca	Not available	Beth Potter, bpotter@uottawa.ca	www.informrare.ca
The Canadian Mucopolysaccharidosis Registry	Not available	Mucopolysaccharidosis Mucopolysaccharidosis type 1 MPS II (Hunter syndrome) MPS III (Sanfilippo syndrome) MPS IV (Morquio syndrome) MPS VI (Maroteaux-Larry syndrome) MPS VII (Sly syndrome)	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents	17	Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	CHEO Research Institute	Ottawa, ON, CA	Emma Lynn, elynn@cheo.on.ca	Not available	Not available	www.mpsregistry.ca
The Canadian phenylketonuria Registry	The Canadian PKU Registry	Phenylketonuria	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Canadian PKU and Allied Disorders INC.	Toronto, ON, CA	pkuregistry@cheo.on.ca	Not available	Not available	www.pkuregistry.ca
Congenital Muscle Disease International Registry	CMDIR	Becker muscular dystrophy Bethlem myopathy Centronuclear myopathy COL6-related dystrophies Congenital Myasthenic Syndromes Congenital myopathy Duchenne muscular dystrophy Nemaline Myopathy Limb-girdle muscular dystrophy	Not available	Disease registry	Yes	2009	Active	2009-UNKNOWN	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	4500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	90	Yes	Unknown	Cure CMD	Lakewood, CA, USA	info@cmdir.org	Yes	info@cmdir.org	www.cmdir.org
Eosinophilic Connect Patient Insights Network	Not available	Eosinophilic fasciitis Eosinophilic gastrointestinal disorders Eosinophilic granulomatosis with polyangiitis Hypereosinophilic syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Cardiovascular Diseases Gastroenterological Diseases Hematological Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Respiratory Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	4 245	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	No	Unknown	American Partnership for Eosinophilic Disorders	Atlanta, USA	Mary Jo Strobel, mjstrobel@apfed.org	Not available	Wendy Book, wendy@apfed.org	connect.invitae.com
Functional Neurological Disorder Patient Registry	FND Patient Registry	Not available	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	4	Not available	Unknown	FND HOPE Canada	Salmon, ID, USA	fndhope.org	Yes	fndhope.org	fndhope.org
My Retina Tracker Registry	Not available	Bardet-Biedl syndrome Best vitelliform macular dystrophy Choroideremia Leber congenital amaurosis Retinitis pigmentosa Stargardt disease Usher syndrome X-linked retinoschisis Optic neuritis	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Gastroenterological Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1375	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	over 250	Yes	Unknown	Fighting Blindness Canada	Toronto, ON, CA	Coordinator@MyRetinaTracker.org	Yes	www.fightingblindness.org	www.fightingblindness.org
Genetic of Intellectual Disability and Autism Spectrum Disorders International Project	GenIDA	22q11.2 deletion syndrome AP4 deficiency syndrome KAT6B-related multiple congenital anomalies syndrome CASK-related disorders, X-linked intellectual disability, Najm type (MICPCH) Costello Syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency DYRK1A-related intellectual disability syndrome Fragile X syndrome Jansen de Vries syndrome KBG syndrome Kleefstra Syndrome Koolen-de Vries syndrome Proximal Xq28 duplication syndrome Noonan syndrom	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Allergic Diseases Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Gastroenterological Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Skin Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	2 131	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data	International	over 60	Yes	Unknown	Institut National de la Sante et de la Recherche Medicale (INSERM)	Paris, FR	genida.unistra.fr	No	Not available	genida.unistra.fr
International Lymphatic Disease and Lymphedema Patient Registry & Biorepository	LE&RN Global registry for Lymphatic Diseases	Diffuse lymphatic malformation Gorham-Stout disease Macrocystic lymphatic malformation Primary intestinal lymphangiectasia Rare lymphatic malformations Central conducting lymphatic anomaly	NCT01336790	Disease registry	Yes	2009	Temporarily inactive	2009-2025	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Rheumatological Diseases Skin Diseases	Unknown	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	20	Yes	Unknown	Lymphatic Education & Research Network	New York, NY, USA	lern@lymphaticnetwork.org	Unknown	lern@lymphaticnetwork.org	lernregistry.stanford.edu
International LGDA Patient Registry for complex lymphatic Anomalies	International LGDA Registry	Diffuse lymphatic malformation Gorham-Stout disease Kaposiform lymphangiomatosis Macrocystic lymphatic malformation Primary intestinal lymphangiectasia Rare lymphatic malformations Central conducting lymphatic anomaly	Not available	Disease registry	Yes	2013	Temporarily inactive	2013-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	575	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	No	Unknown	Lymphangio	FL, USA	registry@lgdalliance.org	Unknown	registry@lgdalliance.org	lgdalliance.org
North American Mitochondrial Disease Consortium Patient Registry and Biorepository	NAMDC Patient Registry and Biorepository	Barth Syndrome Kearns-Sayre syndrome Leigh syndrome Mitochondrial depletion syndrome Mitochondrial myopathy, Mitochondrial neuropathies Pearson syndrome Alpers-Huttenlocher syndrome Familial infantile bilateral striatal necrosis Pelizaeus-Merzbacher disease Phelan-McDermid Syndrome Maternally Inherited Leigh Syndrome MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) Mitochondrial neurogastrointestinal encephalomyopathy Phenylketonuria	NCT01694940	Disease registry	Yes	2010	Active	2011-2026	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	1500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	2	No	Ontario	North American Mitochondrial Disease Consortium	New York, NY, USA	NAMDC@columbia.edu	No	Not available	namdc.rarediseasesnetwork.org
ConnectMPS Patient Registry	Not available	Mucopolysaccharidosis type 1 MPS II (Hunter syndrome) MPS III (Sanfilippo syndrome) MPS IV (Morquio syndrome) MPS VI (Maroteaux-Larry syndrome) MPS VII (Sly syndrome)	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1 254	Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	International	22	No	Unknown	National MPS Society	NC, USA	Terri Klein, terri@mpssociety.org	Not available	Not available	connect.invitae.com
SRNA Registry	Not available	Acute disseminated encephalomyelitis Acute disseminated encephalomyelitis with anti-MOG antibodies Acute flaccid myelitis Neuromyelitis optica Acute transverse myelitis	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Siegel Rare Neuroimmune Association	Philadelphia, PA, USA	GG deFiebre, gdefiebre@wearesrna.org	Yes	GG deFiebre, gdefiebre@wearesrna.org	wearesrna.org
The Urea Cycle Disorder International Patient Registry	UCD-PA International Patient registry	Argininosuccinic aciduria Carbamoyl-phosphate synthase 1 deficiency Citrullinemia Hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency Ornithine transcarbamylase deficiency Propionic Acidemia	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	480	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	International	Not available	Not available	Unknown	National Urea Cycle Disorders Foundation	Pasadena, CA, USA	coordinator@ucdparegistry.org	Yes	coordinator@ucdparegistry.org	www.ucdparegistry.org
Vasculitis Clinical Research – Vasculitis Patient-Powered Research Network Eosinophilic Granulomatosis with Polyangiitis registry	VCRC-VPPRN EGPA Registry	Anti-glomerular basement membrane disease Behcet Disease Primary angiitis of the central nervous system Cogan syndrome Cryoglobulinemic vasculitis Eosinophilic granulomatosis with polyangiitis Epidermolysis Bullosa Acquisita Granulomatosis with polyangiitis Immunoglobulin A vasculitis Kawasaki disease Microscopic polyangiitis Takayasu arteritis	Not available	Contact registry	Not available	2014	Active	2014-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	5000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	90	No	Unknown	Vasculitis Patient-Powered Research Network	Kansas, MO, USA	Christine Yeung, christine.yeung@pennmedicine.upenn.edu	Unknown	Not available	vasculitisfoundation.org
17q12 Interest Group Patient Insights Network	Not available	17q12 microdeletion syndrome 17q12 microduplication syndrome	Not available	Disease registry	No	2023	Inactive	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	333	Unknown	International	Not available	No	Unknown	17q12 Interest Group at Geisinger	Lewisburg, PA, USA	Marissa Mitchel, mwmitchel@geisinger.edu	Not available	Brenda Finucane, bmfinucane@geisinger.edu	connect.invitae.com
3q29deletion Registry	Mulle Lab: The 3q29 Project	3q29 microdeletion syndrome	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents	200	Unknown	International	Not available	Yes	New Brunswick	Rugters Mulle Lab at Center for Advanced Biotechnology and Medicine	Piscataway, NJ, USA	www.3q29.org	Unknown	www.3q29.org	www.3q29.org
4H Leukodystrophy Data – Collection Program	Not available	4H Leukodystrophy	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	Yaya Foundation	Minneapolis, MN, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
International 4-P Patient Registry	4p-/Wolfhirschhorn Syndrome Registry	Wolf-Hirschhorn Syndrome	Not available	Disease registry	No	2010	Active	2010-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents	600	Unknown	International	Not available	No	Unknown	4p Support Group	Livingston, TX, USA	sylvia@4p-supportgroup.org	Yes	research.sanfordhealth.org	4p-supportgroup.org
ADNP International Patient Registry Research Study	ADNP Patient Registry & Natural History	ADNP Syndrome	Not available	Disease registry	No	2019	Active	2019-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	250	Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ADNPkids Research Foundation	WA, USA	www.adnpfoundation.org	Yes	www.adnpfoundation.org	www.adnpfoundation.org
Adrenal Insufficiency United Registry	Not available	Adrenal insufficiency	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Endocrine Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	717	Unknown	International	Not available	No	Unknown	National Adrenal Diseases Foundation	Springfield, OR , USA	Jennifer Knapp, jennifer.k@aiunited.org	Not available	Not available	connect.invitae.com
Alagille Syndrome Patient Insights Network	Not available	Alagille Syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Ophthalmic Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	204	Unknown	International	Not available	No	Unknown	Connect Invitae	San Francisco, CA, USA	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
AHC – Data Collection Program	Not available	Alternating hemiplegia of childhood, Alternating Hemiplegia of Childhood (AHC)	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	cure ahc	Rutherford, NJ, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
The Global Angelman Syndrome Registry	Not available	Angelman Syndrome	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	2828	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	103	Yes	Alberta British Columbia Manitoba Ontario Quebec	Global Angelman Syndrome	Not available	curator@angelmanregistry.info	Yes	www.angelmanregistry.info	www.angelmanregistry.info
Global Ataxia-telangiectasia Family Data Platform	Global A-T Family Data Platform	Ataxia-telangiectasia	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Allergic Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	11	Yes	Unknown	Global A-T Family	USA	support@atfamilies.org	Yes	atfamilies.org	atfamilies.org
Autoimmune Polyglandular Syndrome type 1 Registry	APS type 1 (APECED) Registry	Autoimmune polyendocrinopathy type 1	Not available	Disease registry	No	2019	Active	2019-UNKNOWN	Gastroenterological Diseases Genetic Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	2	Yes	Unknown	The APS Type 1 Foundation Inc.	USA	robin.finch@apstype1.org	Not available	Not available	apstype1.iamrare.org
KAT6A/KAT6B Patient Registry	Not available	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (KAT6A) KAT6B-related multiple congenital anomalies syndrome	Not available	Disease registry	No	2019	Active	2019-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	Yes	Unknown	KAT6 Foundation	West Nyack, NY, USA	kat6a@yahoo.com	Not available	Not available	kat6a.iamrare.org
The Clinical Registry Investigating Bardet-Biedl Syndrome	CRIBBS registry	Bardet-Biedl syndrome Retinitis pigmentosa	NCT02329210	Disease registry	No	2014	Active	2014-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Gastroenterological Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1200	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	40	No	Alberta British Columbia Newfoundland and Labrador Nova Scotia Ontario Prince Edward Island Quebec	Marshfiel Clinic Research Foundation	Marshfield, WI, USA	cribbs@MCRF.MFLDCLIN.EDU	No	Not available	www.bbs-registry.org
Barth Syndrome Registry and Repository	Not available	Barth Syndrome	Not available	Disease registry	No	2006	Temporarily inactive	2006-UNKNOWN	Allergic Diseases Cardiovascular Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Barth Syndrome Foundation	Not available	Melissa Huang, melissa.huang@barthsyndrome.org	Unknown	www.barthsyndrome.org	www.barthsyndrome.org
BPAN – Data Collection Program	Not available	Beta-propeller protein-associated neurodegeneration	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	NBIA Disorder association	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Global Registry for COL6-related dystrophies	Not available	Bethlem myopathy Ullrich congenital muscular dystrophy	NCT04020159	Disease registry	No	2018	Inactive	2018-2024	Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	1000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	John Walton Muscular Dystrophy Research Centre at Newcastle University, UK	Newcastle-upon-Tyne, UK	collagen6registry@newcastle.ac.uk	No	Not available	collagen6.org
ADNP Kids Research Foundation Contact Registry	Not available	ADNP Syndrome	Not available	Contact registry	No	2017	Active	2017-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	475	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	Not available	No	Unknown	ADNP Kids Research Foundation	Prairie, WA, USA	admin@adnpfoundation.org	No	Not available	www.adnpfoundation.org
Canavan Disease Research Patient Insights Network	Not available	Canavan Disease	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	200	Unknown	International	Not available	No	Unknown	Canavan Disease Reseach	Buffalo Grove, IL, USA	Ilyce Randell, ilycerandell@gmail.com	Not available	Not available	connect.invitae.com
RASopathies Network Contact Registry	RASNet Contact Registry	Capillary malformation-arteriovenous malformation Cardiofaciocutaneous syndrome Noonan syndrome-like disorder with risk of developing juvenile myelomonocytic leukemia Costello Syndrome Legius syndrome Neurofibromatosis type 1 Neurofibromatosis type 2 Noonan syndrom Noonan syndrome-like disorder with loose anagen hair Noonan syndrome with multiple lentigines	Not available	Contact registry	No	2011	Active	2011-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Skin Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	2	No	Unknown	Rasopathies Network with Global Genes	USA	info@rasopathiesnet.org	Not available	Not available	rasopathiesnet.org
Cardio-Facio-Cutaneous Syndrome International Patient Insight Network	CFC International Patient Insights Network	Cardiofaciocutaneous syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Skin Diseases	Unknown	Children Adolescents Adults	554	Unknown	International	Not available	No	Unknown	CFC International	Peoria, AZ, USA	Tuesdi Dyer, tdyer@cfcsyndrome.org	Not available	Not available	connect.invitae.com
CASK Registry	Not available	CASK-related disorders, X-linked intellectual disability, Najm type (MICPCH)	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	355	Caregiver data (e.g., Family history) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	47	No	Unknown	CASK Gene Foundation	Provo, UT, USA	hello@caskgene.org	Unknown	hello@caskgene.org	www.caskgene.org
CASK – Data Collection Program	Not available	CASK-related disorders, X-linked intellectual disability, Najm type (MICPCH)	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	140	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CASK Research Foundation, ACNRF – Angelina CASK Neurological Research Foundation, AECF – Association Enfants CASK France, Project CASK	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
ACCELERATE registry	Not available	Castleman disease	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Hematological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	365	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	27	Not available	Unknown	Castleman Disease Collaborative Network	Paso Robles, CA, USA	accelerate@uphs.upenn.edu	No	Not available	cdcn.org
International Cavernous Malformation Patient Registry	Not available	Cavernous angioma	Not available	Disease registry	No	2009	Active	2009-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	15	No	Unknown	Alliance to cure Cavernous Malforation	Cavernous Malformation CA at Edmonton, CA	coordinator@alliancetocure.org	Yes	www.ccmregistry.org	ccmregistry.org
Noonan Syndrome Foundation Patient Registry / Noonan Syndrome Patient Insights Network	Not available	Noonan syndrome-like disorder with risk of developing juvenile myelomonocytic leukemia Noonan syndrom Noonan syndrome-like disorder with loose anagen hair Noonan syndrome with multiple lentigines	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents	303	Unknown	International	Not available	No	Unknown	Noonan Syndrome Foundation	La Habra, CA, USA	Tammy@teamnoonan.org	Not available	Not available	connect.invitae.com
The International CDKL5 Disorder Database	ICDD	CDKL5-deficiency disorder	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Unknown	International	20	Yes	Unknown	The Kids Research Institute Australia	AU	contact@thekids.org.au	Unknown	CDKL5@telethonkids.org.au	rett.thekids.org.au
CDKL5 Registry	Not available	CDKL5-deficiency disorder	Not available	Disease registry	No	2018	Inactive	2018-2024	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	25	Yes	Unknown	Orphan Disease Center at the University of Pennsylvania	PA, USA	odcregistry@pennmedicine.upenn.edu	Unknown	Not available	www.cdkl5registry.org
Connect CDKL5	Not available	CDKL5-deficiency disorder	Not available	Contact registry	No	2018	Active	2018-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	over 500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	45	No	Unknown	International foundation for CDKL5 Research (IFCR)	Wadsworth, OH, USA	info@cdkl5.com	No	Not available	www.cdkl5.com
The Myotubular and Centronuclear Myopathy Patient Registry	The MTM & CNM Registry	Centronuclear myopathy Myotubular myopathy, X-linked centronuclear myopathy	NCT04064307	Disease registry	No	2013	Active	2013-2025	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	444	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	54	Yes	Unknown	Newcastle University	Newcastle, UK	mtmcnmregistry@newcastle.ac.uk	Yes	mtmcnmregistry@newcastle.ac.uk	mtmcnmregistry.org
Chagas Disease Foundation Patient Insights Network	Not available	Chagas disease	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Infectious Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	The Chagas Disease Foundation	Bogart, GA, USA	Rick Tarleton, chagasfoundation@gmail.com	Not available	Not available	connect.invitae.com
CMT4B3 Rare-X Data Collection Program	Not available	Charcot-Marie-Tooth disease type 4B3	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CMT4B3 Research Foundation	NY, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Choroideremia Registry	CHM Registry	Choroideremia	Not available	Contact registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	25	Yes	Unknown	Choroideremia Research Foundation Canada	ON, CA	info@curechm.com	No	Not available	curechm.ca
Coat's Disease Patient Registry	Not available	Coats Disease	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	489	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	49	No	Unknown	Jack McGovern Coats	Burlingame, CA USA	Suzanne Levere, coatsdiseasefoundation@gmail.com	Not available	Not available	connect.invitae.com
Cohen Survey	Not available	Cohen syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Allergic Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cohen Syndrome Association	Middlefield, OH, USA	www.cohensyndrome.org	Unknown	Not available	www.cohensyndrome.org
I-DSD registry	Not available	Congenital adrenal hyperplasia Turner Syndrome 46,XX disorder of gonadal development 46,XY disorder of gonadal development Müllerian aplasia Persistent Müllerian duct syndrome Cloacal exstrophy Non-syndromic cloacal malformation Leydig cell hypoplasia	Not available	Disease registry	No	2005	Active	2005-UNKNOWN	Endocrine Diseases Genetic Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	over 8 800	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	46	Not available	Unknown	International Registries for Rare Conditions Affecting Sex Development & Maturation	University of Glasgow, UK	info@sdmregistries.org	Yes	sdmregistries.org	sdmregistries.org
Congenital Disorder of Glycosylation Connect Patient Insights	Not available	Congenital disorder of glycosylation	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Unknown	Children Adolescents	324	Unknown	International	3	Not available	Unknown	CDG Canada	Brampton, ON, CA	Vijay Sappani, cdgcan@gmail.com	Not available	Not available	connect.invitae.com
Hyperinsulinism International Global Registry	HI Global Registry	Congenital hyperinsulinism	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Endocrine Diseases Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	600	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	60	Yes	Unknown	Congenital Hyperinsulinism International (CHI)	Glen Ridge, NJ, USA	info@higlobalregistry.org	Yes	info@higlobalregistry.org	congenitalhi.org
Costello Syndrome Patient Insight Network	Not available	Costello Syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN – UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	21	Unknown	International	Not available	No	Unknown	Costello Syndrome Family Network	Panama City, FL, USA	info@costellosyndromeusa.org	Not available	Not available	connect.invitae.com
The CreatineInfo Registry & Natural History Study	CreatineInfo Registry	Creatine transporter deficiency GAMT deficiency AGAT deficiency	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	200	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	22	Yes	Unknown	Created by Association for Creatine Deficiencies	USA	registry@creatineinfo.org	Not available	Not available	creatineinfo.iamrare.org
Cure cystinosis International Registry	CCIR	Cystinosis	NCT01327807	Disease registry	No	2010	Inactive	2010-2022	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Unknown	Children Adolescents Adults	750	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	Yes	Unknown	Cystinosis Research Foundation	Not available	curator@cystinosisregistry.org	Yes	research.sanfordhealth.org	www.cystinosis.org.uk
Rare Kidney Stone Consortium International Cystinuria Registry	RKSC International Cystinuria Registry	Cystinuria	Not available	Disease registry	Yes	2010	Active	2010-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Rare Kidney Stone Consortium (RKSC)	New York, NY, USA	Cystinuria@NYULangone.org	Unknown	Not available	www.rarekidneystones.org
Dandy-Walker Alliance Patient Insights Network	Not available	Dandy-Walker syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	460	Unknown	International	Not available	No	Unknown	Dandy-Walker Alliance	Kensington, MD, USA	Eric Cole, eric.cole@dandy-walker.org	Yes	Terri Eldridge, terri.eldridge@dandy-walker.org	connect.invitae.com
HAPPIER – Hydrocephalus Patient Registry	Not available	Hydrocephalus	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	691	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.) Unknown	International	27	Not available	Unknown	Hydrocephalus Association	Bethesda, MD, USA	research@hydroassoc.org	Unknown	Not available	www.hydroassoc.org
Rare Kidney Stone Consortium Dent Disease Registry	RKSC Dent Disease Registry	Dent disease	Not available	Disease registry	Yes	2003	Active	2003-2028	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Renal and Urological Diseases	Unknown	Children Adolescents Adults	105	Unknown	International	Not available	Not available	Unknown	Rare Kidney Stone Consortium (RKSC)	New York, NY, USA	Lada.Bearalasic@NYULangone.org	Unknown	lada.bearalasic@nyulangone.org	www.rarekidneystones.org
Dent Disease – Data Collection Program	Not available	Dent disease	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Dent Diseases Foundation	Kamas, UT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Deoxyhypusine synthase Patient Registry	DHPS Patient Registry	Deoxyhypusine synthase Disorder	Not available	Disease registry	No	2019	Temporarily inactive	2019-UNKNOWN	Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	Not available	Unknown	Cure DHGPS.org	Not available	Not available	Not available	Not available	dhpsregistry.iamrare.org
Diamond Blackfan Anemia Registry	DBAR	Diamond-Blackfan Anemia	NCT00106015	Disease registry	No	1991	Active	1991-2030	Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form) Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	No	Unknown	Northwell Health, The Feinstein Institute for Medical Research	New Hyde Park, NY, USA	DBARegistry@northwell.edu	Unknown	DBARegistry@northwell.edu	www.dbar.org
DS-Connect (Down SyndromConnect): The Down Syndrome Registry	DS-Connect	Down syndrome	NCT01950624	Contact registry	Not available	2013	Active	2013-2035	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	Not available	No	Unknown	University of Colorado	Denver, CO, USA	info@ds-connect.org	No	Not available	ds-connect.org
DYRK1A – Data Collection Program	Not available	DYRK1A-related intellectual disability syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	DYRK1A Syndrome International Association	Otsego, MI, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	dyrk1a.rare-x.org
The Dysferlin Registry/LGMD2B/Miyoshi Myopathy 1	Not available	Dysferlin-related limb-girdle muscular dystrophy R2 Miyoshi myopathy	Not available	Contact registry	Not available	2006	Active	2006-UNKNOWN	Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.)	International	65	Yes	Unknown	Jain Foundation Inc.	Seatle, WA, USA	patients@jain-foundation.org	Yes	www.jain-foundation.org	dysferlinregistry.jain-foundation.org
Telomere Biology Disorders RARE-X Patient Registry	TBD/DC – Data Collection Program	Dyskeratosis congenita	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Allergic Diseases Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	80	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	5	No	Unknown	Team Telomere – An International Community for Telomere Biology Disorders	Missoula, MT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	tbd-dc.rare-x.org
Global Dystonia Registry	Not available	Early-onset generalized limb-onset dystonia Myoclonus-dystonia syndrome Dystonia 28	Not available	Contact registry	Not available	2011	Active	2011-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	over 7 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number)	International	60	Not available	Unknown	Dystonia Medical Research Foundation	Chicago, IL, USA	Coordinator@globaldystoniaregistry.org	Yes	Not available	www.globaldystoniaregistry.org
Ectodermal Dysplasias International Registry	EDIR	Ectodermal Dysplasia	Not available	Disease registry	No	2010	Inactive	2010-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Skin Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Unknown	International	Not available	Not available	Unknown	National Foundation for ectodermal dysplasias (nfed) in collaboration with Genetic Alliance and LUnaPBC	IL, USA	nfed.org	Yes	nfed.org	nfed.patientcrossroads.org
DICE EDS & HSD Global Registry & Repository	Not available	Hypermobile Ehlers-Danlos syndrome Elhers-Danlos Syndrome	Not available	Disease registry	Yes	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1000	Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	The Ehlers-Danlos Society	New York, NY, USA	www.ehlers-danlos.com	Yes	www.ehlers-danlos.com	www.ehlers-danlos.com
Hypersomnia Foundation Registry	Not available	Elhers-Danlos Syndrome Idiopathic hypersomnia Kleine-Levin syndrome Myotonic Dystrophy Narcolepsy type 1 Narcolepsy type 2 Prader-Willi syndrome	Not available	Disease registry	No	2015	Active	2016-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	3 350	Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	Not available	No	Unknown	Hypersomnia Foundation	Atlanta, GA, USA	info@hypersomniafoundation.org	Yes	research.sanfordhealth.org	www.hypersomniafoundation.org
LPLD Connect Patient Insights Network	Not available	Familial chylomicronemia syndrome Familial lipoprotein lipase deficiency Hyperlipoproteinemia type 1	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Endocrine Diseases Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	133	Unknown	International	Not available	No	Unknown	LPL Deficiency Association with	San Mateo, CA, USA	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
International Fanconi Anemia Registry	IRFAR	Fanconi anemia	Not available	Disease registry	No	1982	Active	1982-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Skin Diseases	Unknown	Children Adolescents	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Fanconi Anemia Research Fund	OR, USA	Suzanne Planck, registrymanager@fanconi.org	Not available	Not available	lab.rockefeller.edu
The Fibrodysplasia ossificans progressiva Registry	FOP Registry	Fibrodysplasia ossificans progressiva	NCT02745158	Disease registry	No	2015	Active	2015-2035	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	800	Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	55	Yes	Unknown	International Fibrodysplasia Ossificans Progressiva Association	North Kansas City, MO, USA	info@fopregistry.org	Yes	info@fopregistry.org	fopregistry.org
Food Protein Induced Enterocolitis Syndrome Foundation Global Registry	FPIES Foundation Global Registry	Food Protein Induced Enterocolitis Syndrome	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Allergic Diseases Gastroenterological Diseases	Unknown	Children Adolescents Adults	1 579	Unknown	International	Not available	Yes	Unknown	The FPIES Foundations	Stewartville, MN, USA	Joy Meyer, j.meyer@thefpiesfoundation.org and Amanda Lefew atA.LeFew@thefpiesfoundation.org	Not available	Not available	connect.invitae.com
The Global FOXG1 Patient Registry	Not available	FOXG1 Syndrome	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	FOXG1 Patient Data Center	NY, USA	registry@foxg1research.org	Unknown	registry@foxg1research.org	foxg1research.org
FOXP1 Data Collection Program	Not available	FOXP1 syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	250	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	International FOXP1 Foundation	Mendenhall, PA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Friedreich Ataxia Global Patient Registry	FAGPR	Friedreich ataxia	Not available	Disease registry	No	2019	Inactive	2019-2025	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	55	Yes	Unknown	Lead in Canada is ataxia/ataxie Canada	Montreal, Qc, CA	FAGPR@curefa.org	Unknown	FAGPR@curefa.org	fagpr.healthie.net
Global Fukutin Related Protein Registry	FKRP Registry	Congenital muscular dystrophy type 1C Muscle-Eye-Brain (MEB) Disease FKRP-related limb-girdle muscular dystrophy R9 Walker-Warburg syndrome	Not available	Disease registry	No	2011	Active	2011-UNKNOWN	Cardiovascular Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	50	No	Unknown	John Walton Muscular Dystrophy Research Centre	Newcastle University, UK	fkrpregistry@newcastle.ac.uk	No	Not available	www.fkrp-registry.org
GATAD2B-associated neurodevelopmental disorder Patient Registry	GAND Patient Registry	GATAD2B-associated neurodevelopmental disorders	Not available	Disease registry	No	UNKNOWN	Temporarily inactive	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Unknown	International	Not available	Not available	Unknown	Helping Hands for GAND	Quincy, MA, USA	info@GATAD2B.org	Not available	Not available	www.gatad2b.org
GSD1b Data Collection Program	Not available	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Allergic Diseases Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure GSD1b Research Alliance	Cheshire, CT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	gsd1b.rare-x.org
GM1 Patient Insights Network	Not available	GM1 gangliosidosis	Not available	Disease registry	No	UNKNOWN	Inactive	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	184	Unknown	International	Not available	No	Unknown	GM1 Patient network	Albany, NY, USA	Not available	Not available	Not available	connect.invitae.com
GNAO1 International Registry	Not available	GNAO1-related spectrum	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	161	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	The Bow Foundation	Charlottesville, USA	Emily Bell, emilyherzogbell@gmail.com	Not available	Not available	connect.invitae.com
Hereditary Hemorrhagic Telangiectasia Research Outcomes Registry	HHT Research Outcomes Registry	Hereditary Hemorrhagic Telangiectasia	NCT04150822	Disease registry	No	2018	Inactive	2018-2028	Cardiovascular Diseases Genetic Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Ontario	Unity Health Toronto	Toronto, ON, CA	Marie Faughnan, Marie.Faughnan@unityhealth.to	Unknown	Not available	clinicaltrials.gov
Hist1H1E Syndrome Patient Insights Network	HNDS Patient Insights Network	HIST1H1E syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	61	Unknown	International	Not available	No	Unknown	Hist1H1E Syndrome	CA, USA	info@hist1h1e.org	Not available	Not available	connect.invitae.com
Homocystinuria – Data Collection Program	Not available	Homocystinuria	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	100	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	No	Unknown	HCU Network America, HCU CANPCU+ CANPKU+, HCU Network Australia	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Hydrocephalus Patient Insights Network	Not available	Hydrocephalus	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	Hydrocephalus patient insights network	San Francisco, CA, USA	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
Hypomyelination with Atrophy of the Basal ganglia and Cerebellum/TUBB4A Data Collection Program	H-ABC/TUBB4A Data Collection Program	Hypomyelination with atrophy of basal ganglia and cerebellum	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Foundation to fight H-ABC, H-abc Foundation, TUBB4A Foundation Kinslow	Rockville, MD, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
HypoPARAthyroidism – Data Collection Program	Not available	Autoimmune hypoparathyroidism Genetic hypoparathyroidism	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Endocrine Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	HypoPARAthyroidism Association, Inc.	Frisco, TX, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	hypoparathyroidism.rare-x.org
CoRDS International HPP Contact Registry	Global HPP Patient Registry	Hypophosphatasia	Not available	Contact registry	Not available	2016	Active	2016-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number)	International	Not available	Not available	Unknown	CoRDS	SD, USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	softbones.org
Immune Thrombocytopenia Natural History Studies Registry	ITP Natural History Studies Registry	Immune Thrombocytopenia	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Hematological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	868	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	12	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	PDSA (Platelet disorder support association)	OH, USA	Caroline Kruse, ckruse@pdsa.org	Yes	Jennifer DiRaimo, jdiraimo@pdsa.org	itpstudy.iamrare.org
Infantile Neuroaxonal Dystrophy – Data Collection Program	Not available	Infantile neuroaxonal dystrophy	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	INADcure Foundation, NBIA Disorders Association	Fairfield, NJ, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Kabuki Syndrome Patient Registry	Not available	Kabuki Syndrome	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	Yes	Unknown	All Things Kabuki	Wasilla, AK, USA	registry@allthingskabuki.org	Not available	Not available	www.allthingskabuki.org
KCNQ2 Cure International Patient Registry	Not available	KCNQ2-related epileptic encephalopathy	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	Yes	Unknown	KCNQ2Cure.org with	Denver, CO, USA	Scotty Sims, scotty@kcnq2cure.org	Not available	Not available	www.citizen.health
KCNQ2 Contact Registry	Not available	KCNQ2-related epileptic encephalopathy	Not available	Contact registry	Not available	2015	Active	2015-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number)	International	Not available	Not available	Unknown	KCNQ2Cure.org	Denver, CO, USA	info@kcnq2cure.org	Unknown	info@kcnq2cure.org	www.kcnq2cure.org
Champ Foundation Registry	CFR	Kearns-Sayre syndrome Pearson syndrome Chronic Progressive External Ophthalmoplegia	Not available	Disease registry	Yes	2020	Active	2020-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Gastroenterological Diseases Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Unknown	Children Adolescents Adults	Not available	Unknown	International	Not available	Not available	Unknown	CHAMP Foundation	Durham, NC, USA	contact@thechampfoundation.org	Yes	cfr.thechampfoundation.org	cfr.thechampfoundation.org
Kleefstra – Data Collection Program	Not available	Kleefstra Syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	IDefine The Kleefstra Syndrome Foundation	Atlanta, GA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Koolen-de Vries syndrome – Data Collection Program	KDVS – Data Collection Program	Koolen-de Vries syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Koolen-de Vries Syndrome Foundation, global gene	Wilmington, NC, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	kdvsf.rare-x.org
The Severe Chronic Neutropenia International Registry	SCNIR	Kostmann syndrome	Not available	Disease registry	Yes	1994	Active	1994-UNKNOWN	Allergic Diseases Genetic Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	1625	Unknown	International	Not available	No	Unknown	Severe Chronic Neutropenia International Registry	Seattle, WA, USA	SCNIR-dl@childrens.harvard.edu	Yes	SCNIR-dl@childrens.harvard.edu	www.scnir.org
Krabbe CURES	Not available	Krabbe disease	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	Not available	Yes	Unknown	KrabbeConnect	Rosemount, MN, USA	Info@KrabbeConnect.org	Not available	Not available	krabbecures.iamrare.org
Leber hereditary optic neuropathy – Data Collection Program	LHON – Data Collection Program	Leber hereditary optic neuropathy	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	LHON.org, LHON Canada, LHON Society	ON, CA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
LGMD2A/Calpainopathy Registry	Not available	Limb-girdle muscular dystrophy	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Coalition to Cure Calpain 3	Westport, CT, USA	Registry@CureCalpain3.org	Not available	Not available	lgmd2a.iamrare.org
Mal de débarquement syndrome Foundation Patient Insights Network	CONNECT MdDS Balance Disorder Patient Insights Network	Mal de debarquement	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	791	Unknown	International	Not available	No	Unknown	CONNECT MdDS Balance Disorder	USA	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
Dizziness, Vertigo and Imbalance Patient Registry	VeDA patient Registry	Mal de debarquement	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Vestibular Disorders Association	Portland. OR, USA	registry@vestibular.org	Not available	Not available	vestibular.org
North American Malignant Hyperthermia Registry	NAMHR	Malignant Hyperthermia	Not available	Disease registry	No	1987	Active	1987-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	over 400	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	No	Unknown	Malignant Hyperthermia Association of the United States (MHAUS)	FL, USA	anes-mhausregistry@ad.ufl.edu	Yes	anest.ufl.edu	anest.ufl.edu
Moebius syndrome contact registry	Not available	Moebius syndrome	Not available	Contact registry	Not available	2025	Active	2025-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number)	International	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Moebius Syndrome Foundation	Denver, CO, USA	registry@moebiussyndrome.org	Yes	registry@moebiussyndrome.org	moebiussyndrome.org
Morgellons Global Data Registry	Not available	Morgellons Disease	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2,570	Unknown	International	Not available	No	Unknown	Morgellons Global Data	Austin, TX, USA	Gwen Simmons, gwensimmonsrn@gmail.com	Not available	Not available	connect.invitae.com
Global Moyamoya Patient Registry	Not available	Moyamoya disease	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	143	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	17	No	Unknown	Moyamoya Foundation	Harlan, IA, USA	moyamoya-foundation.org	Yes	research.sanfordhealth.org	moyamoya-foundation.org
Myotonic Dystrophy Family Registry	Not available	Myotonic Dystrophy	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	3 273	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	over 50	Not available	Unknown	Myotonic Dystrofy Family Registry	Oakland, CA ,USA	coordinator@myotonicregistry.org	Yes	myotonicregistry.patientcrossroads.org	myotonic.org
ORIGINAL Ogden Syndrome – Data Collection Program	1ogden – Data Collection Program	NAA10	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	15	No	Unknown	NAA10 Families together, Ogden C.A.R.E.S	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Natural History Registry for Necrotizing Enterocolitis	NEC Registry	Necrotizing enterocolitis	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Gastroenterological Diseases	Self-registration Online (e.g., online form)	Children Adolescents	1 139	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Morgan Leary Vaughan Fund	Naugatuk, CT, USA	sv@morgansfund.org	Not available	Not available	necsociety.org
Neurofibromatosis Registry	NF Registry	Neurofibromatosis type 1 Neurofibromatosis type 2	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	11 770	Unknown	International	Not available	No	Unknown	Children Tumor Foundation	New York, NY, USA	nfregistry@ctf.org	Unknown	ctfgrants@altum.com	www.nfregistry.org
International Niemann-Pick Disease Registry	INPDR	Niemann-Pick Disease	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Respiratory Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	International Niemann-Pick Disease Alliance	Washington, UK	info@inpdr.org	Yes	inpdr.org	inpdr.org
Opsoclonus Myoclonus Syndrome patient registry	OMS Patient Registry	Opsoclonus Myoclonus Syndrome	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Neurological and Psychiatric Diseases Ophthalmic Diseases	Unknown	Children Adolescents Adults	170	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	11	Yes	Unknown	OMSLife Foundation	Cypress, TX, USA	Mike@omslife.org	Not available	Not available	oms.iamrare.org
Organic Acidemia Natural History Patient Registry	OAA Natural History Patient Registry	Organic Acidemia	Not available	Disease registry	No	2025	Active	2025-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Organic Acidemia Association	Golden Valley, MN, USA	Kathy Stagni, mkstagni@gmail.com	Not available	Not available	oaaregistry.iamrare.org
Organic Acidemia Patient Insights Network	Not available	Organic Acidemia Propionic Acidemia Glutaric acidemia type 1	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	57	Unknown	International	Not available	No	Unknown	Organic Acedemia Invitae Connect Patient Insights Network	San Fransico	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
Osteogenesis Imperfecta Registry	OI Registry	Osteogenesis imperfecta	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2 500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations)	International	over 50	No	Unknown	Osteogenesis Imperfecta Foundation	MD, USA	cra@hiidatacenter.org	Unknown	cra@hiidatacenter.org	oif.org
International Pachyonychia Congenita Research Registry	IPCRR	Pachyonychia congenita	NCT02321423	Disease registry	No	2004	Active	2004-2030	Developmental anomalies during embryogenesis Genetic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2 973	Unknown	International	60	No	Alberta British Columbia Ontario Quebec Saskatchewan	Pachyonychia Congenita Research & Patient Support Project	UT, USA	info@pachyonychia.org	Yes	www.pachyonychia.org	www.pachyonychia.org
Pallister-Killian Syndrome – Data Collection Program	PKS – Data Collection Program	Pallister-Killian syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	over 30	No	Unknown	PKskids	Green Bay, WI, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Global Paroxysmal Nocturnal Hemoglobinuria patient registry	Global PNH patient registry	Paroxysmal nocturnal hemoglobinuria	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Hematological Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	150	Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	Not available	No	Unknown	Aplastic Anemia and MDS International Foundation	Rockville, MD, USA	pnhregistry@aamds.org	Not available	Not available	pnh.iamrare.org
Parry-Romberg Patient Insights Network	Not available	Parry-Romberg syndrome	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	625	Unknown	International	Not available	No	Unknown	Invitae Patient Insights Networks	San Francisco, CA, USA	connect@invitae.com	Not available	Not available	connect.invitae.com
International PANS Registry	IPR	Pediatric autoimmune disorders associated with Streptococcus infections (PANDAS)	Not available	Disease registry	No	UNKNOWN	Inactive	UNKNOWN-UNKNOWN	Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	3 2000	Unknown	International	Not available	No	Unknown	Pediatric Research & Advocacy Initiative (PRAI)	VA, USA	data@pansregistry.org	Yes	pansregistry.org	pansregistry.org
Pelizaeus-Merzbacher Disease Natural History Study	PMD Natural History Study	Pelizaeus-Merzbacher disease Aicardi Goutières Syndrome Metachromatic leukodystrophy	Not available	Disease registry	No	2019	Active	2019-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	650	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	International	34	No	Unknown	PMD Foundation	Salado, TX, USA	contact@pmdfoundation.com	Unknown	Not available	www.pmdfoundation.org
Phelan-McDermid Syndrome DataHub	PMS DataHub	Phelan-McDermid Syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	over 10	No	Unknown	Phelan-McDermid Syndrome Foundation	Osprey, FL, USA	datahub@pmsf.org	Yes	pmsf.org	pmsf.org
PKU patient registry	Not available	Phenylketonuria	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	15	Yes	Unknown	NPKUA National PKU alliance	Roanoke, VA, USA	registry@npkua.org	Not available	Not available	pku.iamrare.org
Global Poland Syndrome Community Register	Not available	Poland Syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	200	Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	27	No	Unknown	Poland Syndrome Support & Network	UK	pip-uk.org	No	Not available	pip-uk.org
Polymicrogyria Awareness Patient Insights Network	PMG Awareness Patient Insights Network	Polymicrogyria	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	248	Unknown	International	Not available	No	Unknown	PMG Awareness Organization	USA	information@pmgawareness.org	Not available	Not available	connect.invitae.com
Potocki-Lupski Syndrome DATA BASE-Registry	Not available	Potocki-Lupski syndrome	Not available	Disease registry	No	2007	Active	2007-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	Potocki-Lupski Syndrome Foundation, Inc	TX, USA	ptlsfoundation.org	No	Not available	ptlsfoundation.org
Global Prader-Willi Syndrome Registry	Global PWS Registry	Prader-Willi syndrome	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	1 069	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	37	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Ontario Quebec Saskatchewan	Foundation for Prader-Willi Research	Walnut, CA, USA	info@pwsregistry.org	Not available	Not available	pwsregistry.org
Primary Ciliary Dyskinesia Foundation Registry	PCDFR	Primary ciliary dyskinesia	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Respiratory Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	No	British Columbia Ontario Quebec	PCD Foundation	Rochester, NY, USA	registry@pcdfoundation.org	No	Not available	pcdfoundation.org
Primary Sclerosing Cholangitis Patient Registry	PSC Patient registry	Primary Sclerosing Cholangitis	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Gastroenterological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2700	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	Yes	Unknown	PSC Partners Seeking a Cure	Greemwood Village, CO, USA	registrycoordinator@pscpartners.org	Yes	www.pscpartnersregistry.org	www.pscpartnersregistry.org
The Progeria Research Foundation International Progeria Patient Registry	The PRF International Progeria Patient Registry	Progeria	Not available	Disease registry	Yes	2000	Active	2000-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Skin Diseases	Self-registration Online (e.g., online form) Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	48	Yes	Alberta New Brunswick Ontario Quebec Unknown	Progeria Research Foundation	Peabody, MA, USA	info@progeriaresearch.org	Unknown	www.progeriaresearch.org	www.progeriaresearch.org
Progressive Familial Intrahepatic Cholestasis Network Patient Registry	PFIC Network Patient Registry	Progressive familial intrahepatic cholestasis	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	100	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	pfic Adcocacy & Resource Network, INC	Stanton, KY, USA	info@pfic.org	Yes	form.asana.com	www.pfic.org
Propionic Acidemia International Patient Registry	PAIPR	Propionic Acidemia	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	480	Unknown	International	Not available	No	Unknown	Propionic Acidemia Foundation and National Glossary Urea Cycle Disorders Foundation	IL, USA	coordinator@ucdparegistry.org	Unknown	coordinator@ucdparegistry.org	www.ucdparegistry.org
Pseudoxanthoma Elasticum International Registry	PXE International Registry	Pseudoxanthoma elasticum	Not available	Disease registry	Yes	2021	Active	2021-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases	Unknown	Children Adolescents Adults	4 000	Unknown	International	Not available	No	Unknown	PXE International Research	MD, USA	info@pxe.org	Unknown	registry.pxe.org	registry.pxe.org
The International Pyridoxine-Dependent Epilepsy Registry	The International PDE Registry	Pyridoxine-dependent epilepsy	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents	over 130	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	9	No	British Columbia Quebec	BC Children	Vancouver, BC, CA	PDE@amsterdamumc.nl	No	Not available	www.pdeonline.org
RING 14 – Data Collection Program	Not available	Ring chromosome 14 syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ring14 USA	Midland, TX, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	ring14.rare-x.org
GM2 Tay-Sachs and Sandhoff Disease Patient Insights Network	Not available	Sandhoff disease Tay-Sachs disease	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	100	Unknown	International	Not available	No	Unknown	National Tay-Sachs & Allied Diseases Association (NTSAD) and Cure Tay-Sachs Foundation (CTSF)	Boston, MA, USA	Diana Pangonis, diana@ntsad.org	Not available	Not available	connect.invitae.com
Foundation for Sarcoidosis Patient Registry	FSR-S.A.R.C.	Sarcoidosis	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Cardiovascular Diseases Endocrine Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	6 700	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Foundation for Sarcoidosis Research	Chicago, IL, USA	info@stopsarcoidosis.org	Yes	www.stopsarcoidosis.org	www.stopsarcoidosis.org
Global Schinzel-Giedion Syndrome Registry	SGS Registry	Schinzel-Giedion Syndrome	Not available	Disease registry	No	2025	Active	2025-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Schinzel-Giedion Syndrome Foundation	UK	contact@sgsfoundation.org	Unknown	contact@sgsfoundation.org	sgsfoundation.org
The Cute Syndrome Foundation Global SCN8A Survey Series	Not available	Not available	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	The Cute Syndrome Foundation	MI, USA	Shelley Frappier, surveysupport@thecutesyndrome.com	Not available	Not available	tcsfsurveys.iamrare.org
SETBP1 – Data Collection Program	Not available	SETBP1 haploinsufficiency disorder	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	SETBP1 society	Austin, TX, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
MyAI: An Adrenal Insufficiency Patient Registry	Adrenal Insufficiency Study RECRUITMENT (MyAI)	Adrenal insufficiency	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Endocrine Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	National Adrenal Diseases Foundation	Newton, MA, USA	adrenal@dartnetinstitute.org	No	Not available	www.nadf.us
Get Connected Patient Powered Registry	SCDAA's patient-powered registry	Sickle cell anemia	Not available	Contact registry	Not available	2015	Active	2015-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Rheumatological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	Sickle Cell Disease Association of America	OR, USA	GetConnected@sicklecelldisease.org	No	Not available	www4.gvtsecure.com
International Skeletal Dysplasia Registry	ISDR	Primary bone dysplasia Achondroplasia Osteogenesis imperfecta Thanatophoric dysplasia	Not available	Disease registry	Yes	1970	Active	1970-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	50	Yes	Unknown	UCLA health	CA, USA	ISDR@mednet.ucla.edu	No	Not available	www.uclahealth.org
Global patient registry for Smith-Kingsmore syndrome	SKS Global patient registry	Smith-Kingsmore syndrome	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	43	No	Unknown	Smith-Kingsmore Syndrome Foundation	USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	smithkingsmore.org
Smith-Magenis Syndrome Patient Registry	SMS Patient Registry	Smith-Magenis syndrome	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Parents and Researchers interested in Smith-Magenis Syndrome (prisms)	VA, USA	prisms.registry@bcm.edu	Yes	prisms.registry@bcm.edu	www.prisms.org
Vanda Pharmaceutical's Smith-Magenis Syndrome Patient Registry	Not available	Smith-Magenis syndrome	NCT03154697	Disease registry	No	2016	Active	2016-2030	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	85	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	Not available	Yes	Unknown	Vanda Pharmaceuticals, Inc.	Washington, DC, USA	clinicaltrials@vandapharma.com	No	Not available	www.prisms.org
STXBP1 Disorders – Data Collection Program	Not available	SYNGAP1-related DEE STXBP1-related encephalopathy	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	STXBP1 Foundation	NC, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Syngap1 – Data Collection Program	Not available	SYNGAP1-related DEE	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	SynGAP Research Fund	San Diego, CA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Tatton Brown Rahman Syndrome Community and DNMT3A Patient Registry	TBRS and DNMT3A	Tatton Brown Rahman Syndrome DNMT3A-related microcephalic dwarfism	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	TBRS Community	Stanfordville, NY, USA	Jill Kiernan, jill@tbrsyndrome.org	Not available	Not available	tbrsregistry.iamrare.org
Trisomy 18 Foundation Patient Insights Network	Trisomy 18 International Patient Registry	Trisomy 18	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Renal and Urological Diseases	Unknown	Children Adolescents Adults	Not available	Unknown	International	2	No	Unknown	trisomy 18 foundation	USA	Victoria Miller, T18info@trisomy18.org	Not available	Not available	connect.invitae.com
Turner Syndrome Foundation Patient and Caregiver Registry	TSF Patient and Caregiver Registry	Turner Syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	5000	Unknown	International	Not available	No	Unknown	Turner Syndrome Foundation	Holmdel, NJ, USA	info@tsfusa.org	Unknown	turnersyndromefoundation.org	turnersyndromefoundation.org
Turner Syndrome Research Exchange Clinical Registry	TSRX Clinical Registry	Turner Syndrome	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	258	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Turner Syndrome Foundation	Holmdel, NJ, USA	Danielle Bousquet Moore, bousquetmoore@gmail.com	Not available	Not available	connect.invitae.com
Usher Syndrome – Data Collection Program	Not available	Usher syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2 715	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Usher Syndrome Coalition	Westford, MA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Vanishing White Matter Patient Registry	VWM patient registry	Vanishing white matter disease	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Amsterdam Leukodystrophy Center	Amsterdam, NL	registerVWM@amsterdamumc.nl	No	Not available	www.vwmconsortium.org
Vici Syndrome – Data Collection Program	Not available	Vici syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases Immunological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Vici Syndrome Roundation	Boston, MA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Wilson Disease Association Patient Registry Study	Wilson Disease Registry Study	Wilson disease	Not available	Disease registry	Yes	2017	Active	2017-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	300	Unknown	International	3	No	Unknown	Wilsom Disease Association	WI, USA	wd.registry@yale.edu	Yes	rare-xdataaccess@globalgenes.org	wilsondisease.org
Wolfram Syndrome Global Patient Registry	Not available	Wolfram syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Unknown	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Snow Foundation for Wolfram Syndrome Research	Clayton, MO, USA	Pat Gibilisco, pat@thesnowfoundation.org	Not available	Not available	wsglobalregistry.iamrare.org
CACNA1A – Data Collection Program	Not available	CACNA1A-related disorders	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CACNA1A Foundation	Norwalk, CT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	cacna1a.rare-x.org
CACNA1A Foundation's contact registry	Not available	Episodic ataxia type 2 Spinocerebellar ataxia type 6 Familial or Sporadic Hemiplegic Migraine CACNA1A-related disorders	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number)	International	>20	Yes	Alberta Quebec	CACNA1A Foundation	CT, USA	info@cacna1a.org	No	Not available	www.cacna1a.org
CHAMP1 Data Collection Program	Not available	CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CHAMP1 Research Foundation	Spring Hill, FL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Cure AP-4 Connect Patient Insights Network	Not available	AP4 deficiency syndrome	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	265	Unknown	International	Not available	Yes	Unknown	Invitae – CureAP4	San Francisco, CA, USA	coordinator@pin.invitae.com	Not available	Not available	connect.invitae.com
Data and Tissue Bank of Rare Diseases with Oral Manifestations	Not available	Cleft lip/palate	Not available	Disease registry	Yes	2017	Active	2017-UNKNOWN	Otorhinolaryngological Diseases	Referral from healthcare provide(s)	Children Adolescents	Not available	Unknown	National	Not available	Yes	Quebec	Network for Oral and Bone Health Research (RSBO)	Montreal, QC, CA	info@rd-dental.com	Yes	florina.moldovan@umontreal.ca	rd-dental.org
Guillain-BarrSyndrome \| Chronic Inflammatory Demyelinating Polyneuropathy, MMN, Anti-Mag Registry	GBS\|CIDP Patient Registry	Guillain-Barré syndrome Multifocal motor neuropathy	Not available	Disease registry	No	2019	Active	2019-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	over 250	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	19	No	Unknown	GBS\|CIDP Foundation International	USA	Lori Basiege, Registry@gbs-cidp.org	Not available	Not available	gbs-cidp.iamrare.org
I-HH Registry	Not available	Congenital hypogonadotropic hypogonadism	Not available	Disease registry	No	2025	Active	2025-UNKNOWN	Endocrine Diseases Genetic Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	International Registries for Rare Conditions Affecting Sex Development & Maturation	Not available	info@sdmregistries.org	Yes	sdmregistries.org	sdmregistries.org
International Pediatric Catecholaminergic polymorphic ventricular tachycardia Registry	The International Pediatric CPVT Registry	Catecholaminergic polymorphic ventricular tachycardiac	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Cardiovascular Diseases Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents	245	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	British Columbia	SADS Foundation with British Columbia Children's Hospital	Vancouver, BC, CA	sads.org	Unknown	info@sads.org	sads.org
Pediatric Brugada Registry	Not available	Brugada syndrome	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Cardiovascular Diseases Genetic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	8	Yes	British Columbia Ontario Quebec	CHU Sainte-Justine	Montreal, Qc, Canada	Cecilia Gonzalez-Corcia, cecilia.gonzalez-corcia.med@ssss.gouv.qc.ca	Unknown	Cecilia Gonzalez-Corcia, cecilia.gonzalez-corcia.med@ssss.gouv.qc.ca	pediatricbrugadaregistry.com
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia	Registry and Natural History Study for HSP	Hereditary spastic paraplegia	NCT04712812	Disease registry	Yes	2020	Inactive	2020-2030	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	700	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	National	Not available	No	Unknown	Boston Children's Hospital	Boston, MA, USA	Not available	Yes	Darius Ebrahimi-Fakhari, hsp.research@childrens.harvard.edu	www.childrenshospital.org
I-CAH Registry	Not available	Congenital adrenal hyperplasia	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Endocrine Diseases Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	2 690	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	32	Not available	Unknown	International Registries for Rare Conditions Affecting Sex Development & Maturation	Not available	info@sdmregistries.org	Yes	sdmregistries.org	sdmregistries.org
I-TS Registry	Not available	Turner Syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	over 1 400	Unknown	International	32	No	Unknown	International Registries for Rare Conditions Affecting Sex Development & Maturation	UK	info@sdmregistries.org	Yes	sdmregistries.org	sdmregistries.org
The Canadian Acromegaly Registry	Not available	Acromegaly	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Endocrine Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta Nova Scotia Ontario Quebec	Acromegaly Canada with Lumiio	Calgary, AB, CA	info@acromegalyregistry.ca	No	Not available	acromegalyregistry.ca
Fabry Disease Registry & Pregnancy Sub-registry	Not available	Fabry disease	NCT00196742	Disease registry	No	2001	Active	2001-2034	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases Skin Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	9 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	46	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Nova Scotia Ontario Quebec	Genzyme, a Sanofi Company	CA, USA	Contact-Us@sanofi.com	No	Not available	www.sanofi.com
HHT Connect Patient Registry	HHT Connect	Hereditary Hemorrhagic Telangiectasia	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Respiratory Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	cureHHT	Monkton, MD, USA	hhtconnect@curehht.org	Yes	hhtinfo@curehht.org	hhtconnect.iamrare.org
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta	BBD Longitudinal Study of Osteogenesis Imperfecta	Osteogenesis imperfecta	NCT02432625	Disease registry	No	2015	Active	2015-2031	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	1 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	Yes	Quebec	Baylor College of Medicine	Houston, TX, USA	Michaela Durigova, mdurigova@shriners.mcgill.ca	Yes	bbd.rarediseasesnetwork.org	bbd.rarediseasesnetwork.org
International Primary Ciliary Dyskinesia Registry	PCDregistry	Primary ciliary dyskinesia	NCT02419365	Disease registry	No	2014	Active	2014-2030	Genetic Diseases Respiratory Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	2 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	16	No	Alberta	University Hospital Muenster	Muenster, DE	pcdregistry.eu@ukmuenster.de	Unknown	pcdregistry.eu@ukmuenster.de	www.pcdregistry.eu
The Canadian Registry for Amyloidosis Research	CRAR	light-chain amyloidosis Transthyretin amyloidosis Amyloidosis	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Cardiovascular Diseases Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Rheumatological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	403	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta	University of Calgary and University of British Columbia	AB, CA	info@amyloidregistry.com	No	Not available	amyloidregistry.ca
The International Family Registry for Centronuclear and Myotubular	MTM and CNM Registry	Centronuclear myopathy Myotubular myopathy, X-linked centronuclear myopathy	Not available	Contact registry	Not available	2013	Active	2013-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	450	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	54	No	British Columbia Manitoba New Brunswick Nova Scotia Ontario Quebec	Joshua Frase Foundation	Ponte Vedra Beach, FL, USA	mtmcnmregistry@newcastle.ac.uk	Yes	mtmcnmregistry.org	www.joshuafrase.org
International Collaborative Gaucher Group Gaucher Disease Registry & Pregnancy Sub-registry	ICGG Gaucher Registry	Gaucher Disease	NCT00358943	Disease registry	No	1991	Active	1991-2034	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	12 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality)	International	50	Yes	Alberta British Columbia Manitoba New Brunswick Ontario Quebec	Genzyme, a Sanofi Company	MA, USA	Contact-Us@sanofi.com	No	Not available	www.sanofi.com
ASCEND – KIF1A Natural History Study	Not available	NESCAV syndrome Hereditary sensory and autonomic neuropathy type 2 Autosomal spastic paraplegia type 30	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Unknown	International	Not available	No	Unknown	Boston Children's Hospital	New York, NY,USA	ASCENDstudy@childrens.harvard.edu	No	Not available	www.kif1a.org
Kleine-Levin Syndrome Patient Registry	Not available	Kleine-Levin syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Kleine-Levin Syndrome Foundation	San Jose, CA, USA	Registry@KLSFoundation.org	No	Not available	klsfoundation.org
New Onset Refractory Status Epilepticus Family Registry	NORSE/FIRES Family Registry	New-onset refractory status epilepticus Febrile infection-related epilepsy syndrome	Not available	Disease registry	Yes	2019	Inactive	2019-2025	Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	over 100	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	12	Yes	Unknown	Dr Teneille Gofton at Western University and NORSE institute	ON, CA	Not available	Yes	www.norseinstitute.org	www.norseinstitute.org
The PHACE Syndrome International Clinical Registry and Genetic Repository	PHACE Syndrome Registry	PHACE Syndrome LUMBAR Syndrome	Not available	Disease registry	Yes	2006	Active	2006-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Skin Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents	270	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	22	No	Unknown	Stanford University, Department of Dermatology	MC, USA	phaceregistry@stanford.edu	No	Not available	med.stanford.edu
Global Patient Registry for Refsum Disease	Not available	Refsum disease Infantile Refsum Disease	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	45	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	13	No	Unknown	Global DARE Foundation	Windham, MN, USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.defeatadultrefsumeverywhere.org
CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy	CureDRPLA Global Patient Registry	Dentatorubral Pallidoluysian Atrophy	NCT05489393	Disease registry	No	2021	Active	2021-2031	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	40	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	8	Yes	Unknown	CureDRPLA	New York, NY, USA	drplaregistry@ataxia.org.uk	Yes	drplaregistry@ataxia.org.uk	curedrpla.org
Wiedemann-Steiner Syndrome – Data Collection Program	Not available	Wiedemann-Steiner Syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	178	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	more than 15	No	Unknown	WSS Foundation	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
International Registry for Hemophagocytic Lymphohistiocytosis	International Registry for HLH	Hemophagocytic lymphohistiocytosis	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Immunological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Histiocyte Society and European Society of Immunodeficiencies	Pitman, NJ, USA	registry@esid.org	Unknown	registry@esid.org	esid.org
INTO-HLH- Insight Into the Natural History and Treatment Outcomes of Hemophagocytic Lymphohistiocytosis (HLH): A Disease Registry for Patients With HLH	INTO-HLH Registry	Hemophagocytic lymphohistiocytosis	NCT05277272	Disease registry	No	2021	Active	2021-2027	Immunological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	200	Unknown	International	3	Not available	Unknown	Children's Hospital Medical Center, Cincinnati	Cincinnati, OH, USA	intohlh@cchmc.org	Unknown	intohlh@cchmc.org	hlhregistry.org
Rare Diseases Clinical Research Network contact registry	The RDCRN Contact Registry	Autoimmune encephalitis Hereditary Hemorrhagic Telangiectasia Sturge-Weber Syndrome Osteogenesis imperfecta Phelan-McDermid Syndrome X-linked Adrenoleukodystrophy Aicardi Goutières Syndrome Canavan Disease Cerebrotendinous xanthomatosis Krabbe disease Metachromatic leukodystrophy Pelizaeus-Merzbacher disease Vanishing white matter disease Turner Syndrome Barth Syndrome Kearns-Sayre syndrome Leber hereditary optic neuropathy Leigh syndrome Pearson syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Dihydropteridine reductase deficiency DNAJC12 deficiency Phenylketonuria Primary ciliary dyskinesia Propionic Acidemia Ornithine transcarbamylase deficiency Argininosuccinic aciduria Cavernous angioma Eosinophilic gastrointestinal disorders SYNGAP1-related DEE 4H Leukodystrophy MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) Mitochondrial depletion syndrome Autosomal recessive GTP cyclohydrolase deficiency Alpha-1-antitrypsin deficiency Glutaric acidemia type 1 Hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency Carbamoyl-phosphate synthase 1 deficiency Arginase 1 deficiency Apert syndrome Pfeiffer syndrome Crouzon syndrome Muenke syndrome Saethre-Chotzen syndrome PIK3CA-related overgrowth spectrum disorder with vascular malformations Rasmussen syndrome Alexander disease LBSL LCC Multiple sulfatase deficiency Pelizaeus-Merzbacher-like disease Thrombotic microangiopathy Myasthenia gravis 47,XYY syndrome 48,XXYY syndrome 48,XYYY syndrome 48,XXXY syndrome Tetrasomy X syndrome 49,XXXXY syndrome 49,XXXYY syndrome 49,XYYYY syndrome Pentasomy X syndrome Alpers-Huttenlocher syndrome Familial infantile bilateral striatal necrosis Maternally Inherited Leigh Syndrome MERRF Mitochondrial neurogastrointestinal encephalomyopathy Aspergillosis Phenylalanine hydroxylase deficiency Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Disorder of cobalamin metabolism and transport Isovaleric acidemia Citrullinemia type I HHH Syndorme	Not available	Contact registry	Not available	2007	Active	2007-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Infectious Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	4156	Contact information (e.g., name, Email address, phone number)	International	90	No	Unknown	Rare Diseases Clinical Research Network	Cincinnati, OH, USA	www.rarediseasesnetwork.org	No	Not available	www.rarediseasesnetwork.org
Cure GSD1b Research Alliance Contact Registry	Not available	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Not available	Contact registry	Not available	2021	Active	2021-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases Immunological Diseases	Unknown	Children Adolescents Adults	>200	Contact information (e.g., name, Email address, phone number)	International	30	Yes	Unknown	Cure GSD1b Research Alliance	USA	Jamas, jamas@sophieshopefoundation.org	Unknown	Not available	curegsd1b.org
Batten Disease Support & Research Association Foundation Family Register	BDSRA Foundation Family Register	Neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren-Batten disease)	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	134	Contact information (e.g., name, Email address, phone number)	International	Not available	No	Unknown	BDSRA Foundation	Gahanna, OH, USA	research@bdsraaustralia.org	No	Not available	web.charityengine.net
Simons Searchlight registry	Not available	Rare genetic disease Rare intellectual disability	Not available	Disease registry	Yes	2010	Active	2010-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	10 166	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	93	Yes	Unknown	Simons Foundation Autism Research Initiative (SFARI)	New York, NY, USA	coordinator@simonssearchlight.org	Yes	www.sfari.org	www.simonssearchlight.org
CHronic Nonbacterial Osteomyelitis International Registry	CHOIR	Chronic recurrent multifocal osteomyelitis	NCT04725422	Disease registry	No	2018	Active	2018-2050	Rheumatological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	2 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	7	Not available	Alberta British Columbia Ontario	Seattle Children's Hospital	WA, USA	Yongdong (Dan) Zhao, crmoresearch@seattlechildrens.org	Unknown	Yongdong (Dan) Zhao, crmoresearch@seattlechildrens.org	www.seattlechildrens.org
Malan Syndrome – Data Collection Program	Not available	Malan overgrowth syndrome	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Malan Syndrome Foundation	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
International registry for Natural History of SPG11 and SPG15 patients	NAT-HIS SPG 11/15	Autosomal recessive spastic paraplegia type 11 (SPG11) Autosomal recessive spastic paraplegia type 15	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	SPATAX	Paris, FR	Pauline Lallemant, pauline.lallemant@icm-institute.org	Yes	Pauline Lallemant, pauline.lallemant@icm-institute.org	spatax.wordpress.com
International Intestinal Failure Registry	IIFR	Rare intestinal disease	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Gastroenterological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents	565	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	6	No	Unknown	International Intestinal Rehabilitation and Transplant Association (IIRTA) with support from The Transplantation Society (TTS)	Montreal, QC, CA	ifr@intestinalregistry.org	No	Not available	tts.org
North American Pediatric Renal Trials and Collaborative Studies Cystinosis Registry	NAPRTCS Cystinosis Registry	Cystinosis	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	1372	Unknown	International	2	No	Alberta	NAPRTCS	Rockville, MD, USA	Sara Boynton, sboynton@naprtcs.org	No	Not available	www.naprtcs.org
ARG1D Patient contact Registry	Not available	Arginase 1 deficiency	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number)	International	Not available	Yes	Unknown	Arginase 1 Defiency Foundation	Seattle, WA, USA	info@arg1d.org	No	Not available	arg1d.org
Chromosome 8p Registry & Biorepository	Not available	8p inverted duplication/deletion syndrome Duplication 8q/deletion 8p Mosaic trisomy 8 syndrome Ring chromosome 8 syndrome	Not available	Disease registry	Yes	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Project 8p Foundation	New York, NY, USA	engagement@project8p.org	Yes	bina@project8p.org	project8p.org
8p – Data Collection Program	Not available	Duplication 8q/deletion 8p 8p inverted duplication/deletion syndrome Mosaic trisomy 8 syndrome Ring chromosome 8 syndrome	Not available	Disease registry	Yes	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Project 8p	New York, NY, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Achondroplasia and other Skeletal Dysplasia – Data Collection Program	Not available	Achondroplasia Primary bone dysplasia	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Growing Stronger and The Chandler Project	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
ADCY5-Related Dyskinesia – Data Collection Program	Not available	Familial dyskinesia and facial myokymia	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ADCY5.org	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Autosomal Dominant Optic Atrophy- Data Collection Program	Not available	ADOA-Autosomal Dominant Optic Atrophy	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Adoa Association and Cure Adoa Foundation	Usa	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
ADSLD – Data Collection Program	Not available	Adenylosuccinate lyase deficiency	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	rare birds foundation	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
AP-4 HSP – Data Collection Program	Not available	AP4 deficiency syndrome	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure AP-4	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
ARHGEF9 – Data Collection Program	Not available	Hyperekplexia-epilepsy syndrome	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ARHGEF9 Gene	UNK	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
BCAP31 – Data Collection Program	Not available	CADDS	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	BCAP31.org	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Bloom Syndrome – Data Collection Program	Not available	Bloom Syndrome	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases Skin Diseases Immunological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Bloom syndrome association	San Diego, CA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
CHOPS – Data Collection Program	Not available	CHOPS Syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CHOPS Syndrome Global and Fondazione CHOPS Malattie Rare	Not available	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
DESSH – Data Collection Program	Not available	DeSanto-Shinawi Syndrome (DeSSH)	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	27	No	Unknown	The DESSH Foundation	Vernon, NJ, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
DLG4 – Data Collection Program	Not available	DLG4-related synaptopathy	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	DLG4 SHINE Foundation	Dayton, OH, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
DTDS – Data Collection Program	Not available	Dopamine Transporter Deficiency Syndrome (DTDS), Infantile dystonia-parkinsonism	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	DTDS Foundation	Danbury, CT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
HUWE1 – Data Collection Program	Not available	HUWE1-related Disorders (X-linked intellectual disability, Turner type)	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	HUWE1 Community	VA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Jeavons Syndrome – Data Collection Program	Not available	Jeavons Syndrome (Epilepsy with Eyelid Myoclonia)	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure Epilepsy	Chicago, IL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
KDM5C – Data Collection Program	Not available	KDM5C-related syndromic X-linked intellectual disability	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Kares Foundation	Metamora, IL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Lennox-Gastaut Syndrome – Data Collection Program	Not available	Lennox-Gastaut Syndrome (LGS)	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	LGS Foundation	San Diego, CA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
MED13L – Data Collection Program	Not available	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Med13L Foundation and Asociacion Afectados MED13L Espana	Barrington, NJ, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
MSL3 Syndrome – Data Collection Program	Not available	MSL3 Syndrome (Basilicata-Akhtar syndrome)	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	MSL3 Syndorme Foundation	Tucson, AZ, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
NALCN Channel-related disorders (including IHRPF)- Data Collection Program	Not available	NALCN Channel-related disorders	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Channeling Hope Foundation	San Antonio, TX, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
NARS1 – Data Collection Program	Not available	NARS1-Related Neurologic Disorders (NARS1-NDD)	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	The Rory Bell Foundation	Denver, CO, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Pompe Disease- Data Collection Program	Not available	Pompe disease (GSD2)	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Cardiovascular Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Pompe Alliance and Pompe Warrior Foundation	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Salla Research – Data Collection Program	Not available	Salla Disease and related Free Sialic Acid Storage Diseorders (FSASD)	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Star Foundation	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SCAR15 – Data Collection Program	Not available	Spinocerebellar Ataxia Recessive Type 15 (SCAR15)	Not available	Disease registry	No	2024	Active	2024-UNK	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Jack Bear Foundation	Western Springs, IL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SHANK2 – Data Collection Program	Not available	SHANK2-related syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	The SHANK2 Foundation	Miami, FL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
DREAMS PORTAL- Data Collection Portal	Not available	Narcolepsy type 1 Idiopathic hypersomnia Kleine-Levin syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Sleep Consortium, Hypersomnia Foundation, Day4NAPs, PWN4PWN.org, Hypersomnolence Australia, abrarnhi and Hypersomnia Alliance	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SMARD – Data Collection Program	Not available	Spinal muscular atrophy with respiratory distress type 1 (SMARD I) Spinal muscular atrophy with respiratory distress type 2 (SMARD II)	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Smash SMARD	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SNAP25 – Data Collection Program	Not available	SNAP25-DEE	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Snap25 Foundation	New York, NY, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SRRM2 – Data Collection Program	Not available	SRRM2-related neurodevelopmental disorders	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	SRRM2	USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
TANC2 – Data Collection Program	Not available	TANC2-related disorders	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	TANC2 Foundation	Needham, MA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
TBCK Syndrome – Data Collection Program	Not available	TBCK Syndrome	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	TBCK Foundation	Pittsburgh, PA, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
SOX6 – Data Collection Program	Not available	Tolchin-Le Caignec Syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	SOX6 Foundation	ES	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
UBA5 – Data Collection Program	Not available	UBA5-related disorders	Not available	Disease registry	No	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	UBA5 Foundation, Austin 1st Foundation, Raiden Science Foundation	Topeka, KS, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
v-ATPase – Data Collection Program	Not available	Defect in V-ATPase DOORS syndrome Zimmermann-Laband syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	v-ATPase Alliance	Manhattan, NY, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
YWHAG – Data Collection Program	Not available	YWHAG-related Syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	YWHAG Research Foundation	CT, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
ZTTK – Data Collection Program	Not available	ZTTK-related Disorders	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ZTTK SON-SHINE Foundation	New York, NY, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
CoRDS Ataxia Registry	Not available	Ataxia with vitamin E deficiency Ataxia-pancytopenia syndrome Ataxia-telangiectasia Autosomal dominant cerebellar ataxia Autosomal recessive cerebellar ataxia Friedreich ataxia Spastic ataxia X-linked cerebellar ataxia	Not available	Contact registry	Not available	2018	Active	2018-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	more than 3	Not available	Unknown	National Atiaxia Foundation	USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.ataxia.org
Cornelia de Lange Syndrome Registry	CdLS Registry	Cornelia de Lange syndrome	Not available	Contact registry	Not available	2014	Active	2014-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CdLS Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.cdlsusa.org
Hyperacusis Registry	Not available	Hyperacusis	Not available	Contact registry	Not available	2015	Active	2015-UNKNOWN	Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	>200	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	more than 26	No	Unknown	Hyperacusis Research	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	hyperacusisresearch.org
Kawasaki Disease Registry	Not available	Kawasaki disease Multisystem inflammatory syndrome in children and adult	Not available	Contact registry	Not available	2013	Active	2023-UNKNOWN	Rheumatological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Kawasaki Disease Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	Not available
Klippel-Feil Syndrome Registry	Not available	Klippel-Feil syndrome	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Klippel-Feil Syndrome Freedom	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.childneurologyfoundation.org
Marinesco-Sjogren Syndrome Registry	MSS Registry	Marinesco-Sjogren syndrome	Not available	Contact registry	Not available	2015	Active	2015-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Marinesco-Sjogren Syndrome Support Group	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.marinesco-sjogren.org
Mucolipidosis Type IV Registry	ML4 Registry	Mucolipidosis Type IV (ML4)	Not available	Contact registry	Not available	2015	Active	2015-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Mucolipidosis Type IV Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	ml4.org
Stickler Syndrome Registry	Not available	Stickler syndrome	Not available	Contact registry	Not available	2014	Active	2014-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Stickler Involved People	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	Not available
WAGR Syndrome Registry	Not available	11p13 deletion syndrome (WAGR syndrome)	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	142	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	22	No	Unknown	International WAGR Syndrome Association	USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	wagr.org
Narcolepsy Registry	Not available	Narcolepsy type 1 Narcolepsy type 2	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	PWN4PWN	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.pwn4pwn.org
Atypical Hemolytic-Uremic Syndrome Registry	aHUS Registry	Atypical hemolytic uremic syndrome	NCT01522183	Disease registry	No	2012	Active	2013-2031	Genetic Diseases Hematological Diseases Renal and Urological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	3 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	15	Yes	Ontario Quebec	Alexion Pharmaceuticals, Inc.	Not available	clinicaltrials@alexion.com	Yes	research.sanfordhealth.org	ahusregistry.com
Wiedemann-Steiner Syndrome Registry	WSS Registry	Wiedemann-Steiner Syndrome	Not available	Contact registry	Not available	2017	Active	2017-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	67	Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	10	Yes	Unknown	WSS Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.wssfoundation.org
Alagille Syndrome CoRDS Patient Registry	ALGS CoRDS Patient Registry	Alagille Syndrome	Not available	Contact registry	Not available	2018	Active	2018-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Hematological Diseases Ophthalmic Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Alagille Syndrome Alliance	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	alagille.org
Lowe Syndrome Registry	Not available	Oculocerebrorenal syndrome of Lowe (Lowe Syndrome)	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Lowe Syndrome Association	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	lowesyndrome.org
Pitt Hopkins Registry	Not available	Pitt-Hopkins Syndrome	Not available	Contact registry	Not available	2018	Active	2018-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Pitt Hopkins Research Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	pitthopkins.org
Batten Disease Registry	Not available	Neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren-Batten disease)	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	BDSRA Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	Not available
1p36 Deletion Syndrome Registry	Not available	1p36 deletion syndrome	Not available	Contact registry	Not available	2019	Active	2019-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	1p36 Deletion Support & Awareness	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.1p36dsa.org
Chronic Recurrent Multifocal Osteomyelitis Registry	CRMO Registry	Chronic recurrent multifocal osteomyelitis	Not available	Contact registry	Not available	2022	Active	2022-UNKNOWN	Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CRMO Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	crmofoundation.org
Malan Syndrome Registry	Not available	Malan overgrowth syndrome	Not available	Contact registry	Not available	2019	Active	2019-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Malan Syndrome Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.malansyndrome.org
Alstrom United Kingdom Registry	Not available	Alstrom Syndrome	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Alstrom Syndrome UK	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.alstrom.org.uk.
Curing Retinal Blindness Foundation Registry	CRBF and CoRDS Patient Registry for CRB1 LCA/RP	Retinitis pigmentosa Leber congenital amaurosis Optic neuritis	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Curing Retinal Blindness Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.crb1.org
KCNMA1 Channelopathy International Advocacy Foundation Registry	Not available	KCNMA1 Channelopathy	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	KCNMA1 Channelopathy International Advocacy Foundation (KCIAF)	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	meredithlab.org
Maple Syrup Urine Disease Family Support Group Registry	MSUD FSG Regsitry	Maple Syrup Urine Disease	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	145	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Maple Syrup Urine Disease (MSUD) Family Support Group	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	msud-support.org
International Association for Muscle Glycogen Storage Disease Registry	IamGSD Registry	Glucogen storage Disease Cori disease (GSD3a) McArdle disease (GSD5) Tarui disease (GSD7) GSD9d GSD13 GSD15	Not available	Contact registry	Not available	2019	Active	2019-UNKNOWN	Cardiovascular Diseases Gastroenterological Diseases Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	500	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	International Association for Muscle Glycogen Storage Disease	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.iamgsd.org
Myhre Syndrome Patient Registry	Not available	Myhre Syndrome	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	86	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	22	No	Unknown	Myhre Syndrome Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.myhresyndrome.org
Nicolaides Baraitser Syndrome Worldwide Foundation Registry	NCBRS Registry	Nicolaides Baraitser Syndrome	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	11	No	Unknown	Nicolaides Baraitser Syndrome Worldwide Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	ncbrs-worldwide-foundation.weebly.com
Recurrent Respiratory Papillomatosis Foundation Registry	RRPF Registry	Recurrent Respiratory Papillomatosis	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Otorhinolaryngological Diseases Respiratory Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	Not available	No	Unknown	Recurrent Respiratory Papillomatosis Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	rrpf.org
White Sutton Syndrome Foundation Registry	Not available	White-Sutton syndrome Kleefstra Syndrome CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome	Not available	Contact registry	Not available	2020	Active	2020-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	over 90	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	13	No	Unknown	White Sutton Syndrome Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	whitesutton.org
Tango2 Research Foundation Registry	Not available	TANGO2-related disorder	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Tango2 Research Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	tango2research.org
International Sacral Agenesis/Caudal Regression Association registry	CoRDS/iSACRA Patient Registry	Caudal regression syndrome	Not available	Contact registry	Not available	2023	Active	2023-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	International Sacral Agenesis/Caudal Regression Association	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	isacra.org
Warburg Micro Research Foundation Registry	Warburg Micro Registry	Warburg micro syndrome Martsolf syndrome	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Endocrine Diseases Genetic Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Warburg Micro Research Foundation	USA	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	warburgmicro.org
Riaan Research Initiative (RRI) Registry	Cockayne Syndrome Global Patient Registry	Cockayne Syndrome	Not available	Contact registry	Not available	2022	Active	2022-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	RIAAN Research Initiative	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	riaanresearch.org
Cure Mucolipidosis Registry	Not available	Mucolipidosis	Not available	Contact registry	Not available	2021	Active	2021-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure Mucolipidosis	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	curemucolipidosis.org
CACNA1H Alliance Registry	Not available	Familial hyperaldosteronism type IV Childhood absence epilepsy	Not available	Contact registry	Not available	UNKNOWN	Temporarily inactive	UNKNOWN-UNKNOWN	Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	CACNA1H Alliance	NY,US	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.cacna1halliance.org
Intestinal Metabolic Bromhidrosis Syndrome Patient Registry	IMBS Alliance Registry	chronical or abnormal bromhidrosis Severe primary trimethylaminuria (TMAU)	Not available	Contact registry	Not available	2021	Active	2021-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	12	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Intestinal Metabolic Bromhidrosis Syndrome (IMBS) Alliance	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.imbs-alliance.org
Non-Ketotic Hyperglycinemia Crusaders Registry	NKH Crusaders Registry	Non-ketotic Hyperglycinemia (Glycine encephalopathy)	Not available	Contact registry	Not available	2022	Active	2022-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	142	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	NKH Crusaders	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.nkhcrusaders.com
Corpus Callosum Disorders Registry	NODCC Registry	Corpus callosum agenesis	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	95	No	Unknown	National Organization for Disorders of the Corpus Callosum (NODCC)	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	nodcc.org
SHINE Syndrome Foundation Registry	Not available	DLG4-related synaptopathy	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	DLG4 Shine Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.dlg4shine.org
Hypertrophic Olivary Degeneration Association Registry	HODA Registry	Hypertrophic olivary degeneration	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Hypertrophic Olivary Degeneration Association (HODA)	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	Not available
Team4Travis Registry	Not available	Familial isolated congenital asplenia	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Immunological Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Team4Travis	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.team4travis.org
BARE Inc. Registry	BARE Patient Registry	Biliary atresia	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Gastroenterological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Biliary Atresia Research & Education (BARE)	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.bareinc.org
Coffin Lowry Syndrome Foundation Registry	Not available	Coffin-Lowry Syndrome	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Coffin Lowry Syndrome foundation with CoRDS	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	coffinlowry.org
Aniridia North America Registry	Eyeris Aniridia Patient Registry	Syndromic aniridia	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Aniridia North America	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.aniridiana.org
Cure Blau Syndrome Foundation Registry	Blau Syndrome International Registry	Blau Syndrome	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Genetic Diseases Ophthalmic Diseases Respiratory Diseases Rheumatological Diseases Skin Diseases Immunological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure Blau Syndrome Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.curebs.com
Cure DHDDS Registry	DHDDS & Nus1 Global Patient Registry	DHDDS-related disorders	Not available	Contact registry	Not available	2023	Active	2023-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Cure DHDDS	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.curedhdds.org
SPATA Foundation Registry	Not available	SPATA5-related disorders	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Alberta Unknown	SPATA Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.spatafoundation.org
American Behcet's Disease Association Registry	Not available	Behcet Disease	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Cardiovascular Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Rheumatological Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	ABDA – American Behcet's Diseases Association	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	Not available
Acrodysostosis Registry	Not available	Acrodysostosis	Not available	Contact registry	Not available	2026	Temporarily inactive	2026-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Acrodysostosis Support and Research	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.acrodysostosis.org
Pyruvate dehydrogenase deficiency Patient Registry	PDCD Patient Registry	Pyruvate dehydrogenase deficiency (PDCD)	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Hope for PDCD Research for a cure	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.hopeforpdcd.org
WWOX Patient Registry	Not available	WWOX-related disorders Spinocerebellar Ataxia 12 WWOX-related epileptic encephalopathy	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	WWOX Foundation	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	www.wwox.org
PBCers Organization Registry	Not available	Primary biliary cholangitis	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Gastroenterological Diseases	Self-registration Online (e.g., online form)	Adolescents Adults	Not available	Caregiver data (e.g., Family history) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	PBCers Organization	Not available	cords@sanfordhealth.org	Yes	research.sanfordhealth.org	pbcers.org
Alport Syndrome Canadian Registry	Not available	Alport syndrome	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases	Unknown	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number)	National	Not available	Not available	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	University of Calgary	Calgary, AB, CA	Julian.Midgley@albertahealthservices.ca	Unknown	Julian.Midgley@albertahealthservices.ca	Not available
Autosomal recessive cerebellar ataxias Registry	ARCA Registry	Autosomal recessive cerebellar ataxia	Not available	Disease registry	Yes	2013	Active	2013-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	over 800	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	more than 15	Yes	Quebec	German Center for Neurodegenerative Diseases	Germany	Ludger.Schoels@dzne.de	Unknown	Ludger.Schoels@dzne.de	www.dzne.de
BHD Syndrome International Registry	BIRT	Birt-Hogg-Dubé syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Genetic Diseases Renal and Urological Diseases Respiratory Diseases Skin Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	>200	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Alberta Ontario Quebec	Myrovlytis Trust	London, UK	www.thebhdfoundation.org	Unknown	www.thebhdfoundation.org	www.thebhdfoundation.org
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders	PBD Registry	Peroxisome Biogenesis Disorder Zellweger Spectrum Disorder Rhizomelic Chondrodysplasia Punctata D-Bifunctional Protein Deficiency Alpha-Methylacyl-CoA Racemase Deficiency Peroxisomal Acyl-CoA Oxidase Deficiency Refsum disease	NCT01668186	Disease registry	Yes	2012	Active	2012-2031	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	244	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Quebec	McGill University Health Centre/Research Institute of the McGill University Health Centre	Montreal, QC, CA	Nancy E Braverman, nancy.braverman@mcgill.ca	Unknown	Nancy E Braverman, nancy.braverman@mcgill.ca	rimuhc.ca
Rare Kidney Stone Consortium Primary Hyperoxaluria Registry	RKSC PH Registry	Primary hyperoxaluria type 1 Primary Hyperoxaluria type 2 Primary hyperoxaluria type 3	NCT00588562	Disease registry	Yes	2003	Active	2003-2028	Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	730	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	29	No	Unknown	Rare Kidney Stone Consortium	Rochester, MN, USA	hyperoxaluriacenter@mayo.edu	Unknown	Julie B. Olson, rarekidneystones@mayo.edu	www.rarekidneystones.org
Rare Kidney Stone Consortium Adenine phosphoribosyltransferase Deficiency Registry	RKSC APRT Registry	Adenine phosphoribosyltransferase (APRT) Deficiency	NCT00588562	Disease registry	Yes	2003	Active	2003-2028	Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Rare Kidney Stone Consortium	Rochester, MN, USA	rarekidneystones@mayo.edu	Unknown	Julie B. Olson, rarekidneystones@mayo.edu	www.rarekidneystones.org
Rare Kidney Stone Consortium 24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry	Not available	24-Hydroxylase Deficiency	NCT03478761	Disease registry	Yes	2017	Active	2017-2030	Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	600	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Rare Kidney Stone Consortium	Rochester, MN, USA	Barb M Seide, seide.barbara@mayo.edu	Unknown	Julie B. Olson, rarekidneystones@mayo.edu	www.mayo.edu
TREAT-NMD global registry network	Not available	Duchenne muscular dystrophy Limb-girdle muscular dystrophy Proximal spinal muscular atrophy Facioscapulohumeral dystrophy Myotonic Dystrophy	Not available	Disease registry	No	2007	Active	2007-UNKNOWN	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email) Unknown	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	41	Not available	Unknown	TREAT-NMD Network	UK	registries@treat-nmd.com	Yes	www.treat-nmd.org	www.treat-nmd.org
CANadian Aortopathy and Connective Tissue Disorders Registry	CAN-ACT Registry	Marfan Syndrome Loeys-Dietz syndrome	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Rheumatological Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	233	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba Newfoundland and Labrador Nova Scotia Ontario Quebec Saskatchewan	Loey Dietz Syndrome Foundation	Qc, CA	loeysdietzcanada.org	Unknown	Not available	loeysdietzcanada.org
Canadian Hemophilia Registry	Not available	Hemophilia A Hemophilia B von Willebrand disease	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Genetic Diseases Hematological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	over 3 200 for Hemophilia A and over 740 for Hemophilia B	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Not available	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Association of Hemophilia Clinic Directors of Canada	Ottawa, ON, CA	admin.ahcdc@gallaher.ca	No	Not available	www.ahcdc.ca
Pompe Disease Registry	Not available	Pompe disease (GSD2)	NCT00231400	Disease registry	No	2004	Active	2004-2034	Cardiovascular Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form) Referral from healthcare provide(s)	Children Adolescents Adults	2 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality)	International	42	Not available	Alberta British Columbia Manitoba New Brunswick Ontario Quebec	Genzyme, a Sanofi Company	MA, USA	Contact-Us@sanofi.com	No	Not available	www.registrynxt.com
International Rare Histiocytic Disorders Registry	IRHDR	Non-Langerhans cell histiocytosis Xanthoma disseminatum Juvenile Xanthogranuloma Multicentric reticulohistiocytosis Erdheim-Chester Disease Rosai Dorfman disease	NCT02285582	Disease registry	No	2014	Active	2014-2028	Rheumatological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	300	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	10	No	Ontario Quebec	The Hospital for Sick Children	ON, CA	oussama.abla@sickkids.ca	Unknown	oussama.abla@sickkids.ca	clinicaltrials.gov
Pyruvate Kinase Deficiency Global Longitudinal Registry	Peak Registry	Pyruvate Kinase Deficiency	NCT03481738	Disease registry	No	2018	Inactive	2018-2027	Genetic Diseases Hematological Diseases Inherited Metabolic Disorders	Referral from healthcare provide(s)	Children Adolescents Adults	500	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	20	Not available	Ontario Quebec	Agios Pharmaceuticals, Inc.	Cambridge, MA, USA	MedInfo@agios.com	Yes	www.agios.com	peakregistry.com
TIRCON International NBIA Registry	Not available	Pantothenate kinase-associated neurodegeneration Beta-propeller protein-associated neurodegeneration Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) Fatty Acid Hydroxylase-associated Neurodegeneration Kufor-Rakeb Syndrome Neuroferritinopathy Aceruloplasminemia Woodhouse-Sakati Syndrome COASY Protein-associated Neurodegeneration (CoPAN) PLA2G6-Associated Neurodegeneration (PLAN)	NCT05522374	Disease registry	Yes	2012	Active	2012-2040	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	2 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	8	Not available	Ontario	LMU Klinikum	Munchen, DE	tircon@med.uni-muenchen.de	Yes	Anna Baur-Ulatowska, Anna.Baur@med.uni-muenchen.de	tircon.eu
The Rare Hip Conditions Registry	Not available	Rare bone disease	Not available	Disease registry	No	2022	Inactive	2022-UNKNOWN	Bone and Musculoskeletal Diseases Rheumatological Diseases	Unknown	Children Adolescents	Not available	Unknown	International	Not available	Not available	Unknown	HippyLab	Vancouver, BC, CA	Emily Schaeffer, emily.schaeffer@bcchr.ca	Unknown	Emily Schaeffer, emily.schaeffer@bcchr.ca	www.hippylab.ca
Slipped capital femoral epiphysis Longitudinal International Prospective Registry	SLIP Registry	Slipped capital femoral epiphysis	NCT04117841	Disease registry	No	2018	Active	2018-2028	Bone and Musculoskeletal Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents	over 800	Unknown	International	5 countries	Not available	British Columbia Ontario	HippyLab, University of British Columbia	Vancouver, BC, CA	Kishore Mulpuri, kmulpuri@cw.bc.ca	Unknown	Kishore Mulpuri, kmulpuri@cw.bc.ca	www.hippylab.ca
The Global Alagille Alliance Study	The GALA Study	Alagille Syndrome	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Genetic Diseases Ophthalmic Diseases Renal and Urological Diseases	Referral from healthcare provide(s)	Children Adolescents	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	34	Not available	Alberta Manitoba Ontario	Dr. Binita M. Kamath at The Children's Hospital of Philadelphia (CHOP)	Philadelphia, USA	RABENAUQ@chop.edu	No	Not available	www.galastudy.com
Montalcino Aortic Consortium registry	MAC registry	Heritable Thoracic Aortic Disease	NCT04005976	Disease registry	No	2016	Active	2016-2037	Cardiovascular Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	6	Not available	Alberta Ontario	Montalcino Aortic Consortium	Italy	Dianna M Milewicz, Dianna.M.Milewicz@uth.tmc.edu	Unknown	Dianna M Milewicz, Dianna.M.Milewicz@uth.tmc.edu	montalcinoaorticconsortium.org
Lysosomal Acid Lipase Deficiency Registry	LAL-D Registry	Lysosomal acid lipase deficiency	NCT01633489	Disease registry	No	2013	Active	2013-2029	Genetic Diseases Inherited Metabolic Disorders	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	300	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	22	Not available	Alberta Nova Scotia Ontario Unknown	Alexion Pharmaceuticals Inc	MA, USA	medinfo@alexion.com	No	Not available	laldeficiencyregistry.com
Koolen-de Vries Syndrome Contact Registry	KDVS Contact Registry	Koolen-de Vries syndrome	Not available	Contact registry	Not available	2022	Active	2022-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	>200	Contact information (e.g., name, Email address, phone number)	International	32	Not available	Unknown	Koolen-de Vries Syndrome Foundation	Wilmington, NC, USA	kdvsfoundation.org	No	Not available	kdvsfoundation.org
International Working Group on Neurotransmitter Related Disorders Registry	iNTD Registry	Aromatic L-amino acid decarboxylase (AADC) Deficiency Autosomal recessive dopa-responsive dystonia Dopamine beta-hydroxylase deficiency Monoamine oxidase A Deficiency Dopamine Transporter Deficiency Syndrome (DTDS), Infantile dystonia-parkinsonism Vesicular monoamine transporter 2 deficiency Autosomal recessive GTP cyclohydrolase deficiency Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease) 6-pyruvoyl-tetrahydropterin synthase deficiency Dihydrofolate reductase deficiency 3-phosphoglycerate dehydrogenase deficiency Infantile/Juvenile 3-phosphoglycerate dehydrogenase deficiency prenatal 3-phosphoserine phosphatase deficiency Infantile/Juvenile 3-phosphoserine phosphatase deficiency prenatal Non-ketotic Hyperglycinemia (Glycine encephalopathy) GABA-transaminase deficiency Succinate-semialdehyde-dehydroxylase deficiency DNAJC12 deficiency Phosphoserine aminotransferase deficiency Infantile/Juvenile Phosphoserine aminotransferase deficiency prenatal	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Unknown	Children Adolescents Adults	578	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	21	Not available	Alberta British Columbia Ontario	International Working Group on Neurotransmitter Related Disorders	DE	intd-online.org	Unknown	kontakt.intd[at]med.uni-heidelberg.de	intd-online.org
The PRES European Network of Registries for Autoinflammatory Diseases in Childhood	EuroFever Registry for Autoinflammatory Diseases	Behcet Disease Blau Syndrome Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome (CANDLE syndrome) Chronic recurrent multifocal osteomyelitis NLRP3-associated autoinflammatory disease Deficiency of IL-36R antagonist (DITRA) Familial Mediterranean fever Hereditary periodic fever syndrome Majeed syndrome Mevalonate kinase deficiency NLRP12-associated hereditary periodic fever syndrome PFAPA syndrome PAPA syndrome Schnitzler syndrome Interleukin-1 receptor antagonist deficiency STING-associated vasculopathy with onset in infancy Periodic fever associated to TNFRSF11A, Tumor necrosis factor receptor 1 associated periodic syndrome Unexplained periodic fever syndrome Deficiency of adenosine deaminase 2 PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome Proteasome-associated autoinflammatory syndromes (PRAAS) Periodic fever-infantile enterocolitis-autoinflammatory syndrome Infantile-onset periodic fever-panniculitis-dermatosis syndrome (OTULIN deficiency) PLCG2-associated antibody deficiency and immune dysregulation (PLAID) Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome (PASH syndrome) Autoimmune interstitial lung disease-arthritis syndrome (COPA syndrome) Recurrent idiopathic pericarditis	Not available	Disease registry	No	2009	Active	2009-UNKNOWN	Immunological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	over 5 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	43	No	Unknown	Paediatric rheumatology european society	IT	printo@gaslini.org	Yes	printo@gaslini.org	www.printo.it
AIDA Network Behcet disease registry	AIDA BD registry	Behcet Disease	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Rheumatological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	953	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network monogenic autoinflammatory diseases registry	AIDA mAIDs registry	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation (APLAID) Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Blau Syndrome Deficiency of IL-36R antagonist (DITRA) Familial cold urticaria Familial Mediterranean fever Hereditary periodic fever syndrome H syndrome Hyperimmunoglobulinemia D with periodic fever Infantile-onset periodic fever-panniculitis-dermatosis syndrome (OTULIN deficiency) Majeed syndrome Muckle-Wells syndrome NLRP12-associated hereditary periodic fever syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Pityriasis rubra pilaris PLCG2-associated antibody deficiency and immune dysregulation (PLAID) Proteasome-associated autoinflammatory syndromes (PRAAS) PAPA syndrome Interleukin-1 receptor antagonist deficiency STING-associated vasculopathy with onset in infancy Periodic fever associated to TNFRSF11A, Tumor necrosis factor receptor 1 associated periodic syndrome Deficiency of adenosine deaminase 2	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Gastroenterological Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases Skin Diseases Immunological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	649	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network scleritis registry	AIDA NIS registry	Rare scleral disorder	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Ophthalmic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	94	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network uveitis registry	AIDA NIU	Uveitis	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Ophthalmic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	557	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network PFAPA syndrome registry	AIDA PFAPA	PFAPA syndrome	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	37	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network Still disease registry	AIDA StD	Systemic arthritis	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Respiratory Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	136	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
AIDA Network USAID registry	AIDA USAID	Periodic Fever Syndrome Periodic fever syndrome of childhood	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	49	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	39	Not available	Unknown	University of Siena	IT	Luca Cantarini, cantarini@unisi.it	Yes	datahub.aida.scilifelab.se	aidanetwork.org
PedNet Haemophilia registry	PHR	Hemophilia A Hemophilia B	NCT02979119	Disease registry	No	2004	Active	2014-2039	Genetic Diseases Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents	3 131	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Pregnancy and/or neonate data	International	19	No	Ontario Quebec	PedNet Haemophilia Research Foundation	NL	info@pednet.eu	Unknown	info@pednet.eu	www.pednet.eu
ERN RARE-LIVER prospective research registry	R-LIVER rare liver disease registry	Autoimmune hepatitis Primary biliary cholangitis Polycystic liver disease Primary Sclerosing Cholangitis Budd-Chiari syndrome Non cirrhotic portal hypertension Sinusoidal Obstruction Syndrome	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Gastroenterological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	1 678	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	17	No	Unknown	University Medical Centre Hamburg-Eppendorf	DE	ern.rareliver@uke.de	Yes	rare-liver.eu	rare-liver.eu
Disease registry for patients with Niemann-Pick Type C disease	NPC Registry	Niemann-Pick Type C	Not available	Disease registry	No	2009	Inactive	2009-2017	Genetic Diseases Infectious Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Respiratory Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	463	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	22	No	Unknown	Actelion Pharmaceuticals	Allschwil, CH	clinical-trials-disclosure@actelion.com	Unknown	clinical-trials-disclosure@actelion.com	Not available
A Prospective, Observational Registry of Patients with Fabry Disease	followME registry	Fabry disease	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Infectious Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases	Referral from healthcare provide(s)	Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	18	Not available	Unknown	Amicus Therapeutics	Philadelphia, PA, USA	patientadvocacy@amicusrx.com	No	Not available	research.ucalgary.ca
TED-R13-002: A Prospective, Multi-center Registry for Patients with Short Bowel Syndrome	TED-R13-002: SBS Registry	Short Bowel Syndrome	NCT01990040	Disease registry	No	2014	Inactive	2014-2029	Gastroenterological Diseases	Unknown	Children Adolescents Adults	1 806	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	18	Not available	Unknown	Takeda	Tokyo, JP	TrialDisclosures@takeda.com	Yes	clinicaltrials.takeda.com	catalogues.ema.europa.eu
AN OBSERVATIONAL, LONGITUDINAL, PROSPECTIVE, LONG-TERM REGISTRY OF PATIENTS WITH HYPOPHOSPHATASIA	Registry of Patients With Hypophosphatasia	Hypophosphatasia	NCT02306720	Disease registry	No	2017	Active	2015-2031	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Identified through electronic medical records Referral from healthcare provide(s)	Children Adolescents Adults	1 100	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	12	Not available	Manitoba Ontario	Alexion Pharmaceuticals, Inc.	MA, USA	Anna Petryk, adeline.merlet@alexion.com	No	Not available	hppregistry.com
International Catecholaminergic polymorphic ventricular tachycardia Registry	International CPVT Registry	Catecholaminergic polymorphic ventricular tachycardiac	Not available	Disease registry	No	2014	Active	2014-UNKNOWN	Cardiovascular Diseases Genetic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	1 465	Unknown	International	Not available	Not available	Unknown	Amsterdam University Medical Centre	Amsterdam, NL	Luke Starling, l.starling@nhs.net	Unknown	Luke Starling, l.starling@nhs.net	Not available
Canadian Pediatric Surgery Network database	CAPSNet database	Gastroschisis Congenital diaphragmatic hernia	Not available	Disease registry	No	2005	Active	2005-UNKNOWN	Developmental anomalies during embryogenesis Gastroenterological Diseases Respiratory Diseases	Identified through electronic medical records	Children	2922	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba Newfoundland and Labrador Nova Scotia Ontario Quebec Saskatchewan	Canadian Pediatric Surgery Network	Vancouver, BC, CA	Not available	Yes	ruichend7cc094c42.wordpress.com	ruichend7cc094c42.wordpress.com
The Canadian Pediatric Ischemic Stroke Registry	CPISR	Pediatric arterial ischemic stroke	Not available	Disease registry	No	1992	Inactive	1992-2001	Cardiovascular Diseases Neurological and Psychiatric Diseases	Identified through electronic medical records Referral from healthcare provide(s)	Children Adolescents	1 129	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Ontario Quebec	Hospital for Sick Children	Toronto, ON, CA	stroke.research@sickkids.ca	Unknown	lab.research.sickkids.ca	lab.research.sickkids.ca
Canadian Pulmonary Hypertension Registry	Canadian PH registry	Pulmonary arterial hypertension Chronic thromboembolic pulmonary hypertension	Not available	Disease registry	No	2017	Active	2017-UNKNOWN	Respiratory Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	2 212	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Nova Scotia Ontario Quebec Yukon	University of Britich Columbia	Vancouver, BC, CA	info@phacanada.ca	Unknown	info@phacanada.ca	www.phacanada.ca
Pediatric Neurofibromatosis Registry	Not available	Neurofibromatosis type 1	Not available	Disease registry	No	UNKNOWN	Active	UNKNOWN-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Renal and Urological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents	1 500	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.)	National	Not available	Yes	Ontario	sickkids hospital	Toronto, ON, CA	Keenjal Mistry, keenjal.mistry@sickkids.ca	Unknown	Patricia Parkin, patricia.parkin@sickkids.ca	Not available
Verified Interest In Participating In Research Registry	VIPeR Registry	CDKL5-deficiency disorder CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome DLG4-related synaptopathy Ehlers-Danlos syndrome Erythropoietic Porphyria Galactosemia Giant Axonal Neuropathy Mitochondrial disease Niemann-Pick Type C Rett syndrome	Not available	Contact registry	Not available	2024	Active	2024-UNKNOWN	Allergic Diseases Bone and Musculoskeletal Diseases Cardiovascular Diseases Developmental anomalies during embryogenesis Endocrine Diseases Gastroenterological Diseases Genetic Diseases Hematological Diseases Inherited Metabolic Disorders Infectious Diseases Neurological and Psychiatric Diseases Odontological Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases Skin Diseases Immunological Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario Prince Edward Island Quebec Saskatchewan Yukon	Metabolics and Genetics in Canada (M.A.G.I.C) Clinic	Calgary, AB, CA	clinic@magiccalgary.ca	No	Not available	www.viperclinicaltrials.com
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study	UNIFAI	Friedreich ataxia	NCT06016946	Disease registry	No	2024	Active	2023-2048	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	3 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	17	Yes	Ontario Quebec	Friedreich's Ataxia Research Alliance	PA, USA	Cait Monette, cait.monette@cureFA.org	Yes	Cait Monette, cait.monette@cureFA.org	www.curefa.org
Tuberous sclerosis complex Biosample Repository and Natural History Database	TSC Biosample Repository and Natural History Database	Tuberous Sclerosis Lymphangioleiomyomatosis	NCT05676099	Disease registry	Yes	2016	Active	2016-2050	Cardiovascular Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Skin Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	5 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	International	2	Yes	Alberta British Columbia Quebec	National Tuberous Sclerosis Association	Silver Spring, MD, USA	Elizabeth Cassidy, ecassidy@tscalliance.org	Yes	www.tscalliance.org	www.tscalliance.org
World Bleeding Disorders Registry	WBDR	Hemophilia A Hemophilia B von Willebrand disease	NCT03327779	Disease registry	No	2018	Active	2018-2028	Genetic Diseases Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	20 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	50	Yes	Unknown	World Federation of Hemophilia	Montreal, Qc, CA	wbdr@wfh.org	Yes	Donna Coffin, dcoffin@wfh.org	wfh.org
National Collaborative to Improve Care of Children With Complex Congenital Heart Disease	NPC-QIC national registry	Hypoplastic left heart syndrome	NCT02852031	Disease registry	No	2016	Active	2016-2028	Cardiovascular Diseases Developmental anomalies during embryogenesis	Identified through electronic medical records Referral from healthcare provide(s)	Children	5 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	No	Ontario	Children's Hospital Medical Center	Cincinnati, OH, USA	Mark Timbers, mark.timbers@cchmc.org	No	Not available	clinicaltrials.gov
Pediatric Pulmonary Hypertension Network Informatics Registry	(PPHNet) Informatics Registry	Pulmonary arterial hypertension	NCT02249923	Disease registry	No	2014	Active	2014-2031	Respiratory Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	2 500	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	No	Alberta	New York Medical College	Valhalla, NY, USA	Erika B Rosenzweig, Erika.BermanRosenzweig@wmchealth.org	No	Not available	pphnet.org
PARADIGHM: A Registry for Patients With Chronic Hypoparathyroidism	PARADIGHM Registry	Autoimmune hypoparathyroidism Familial isolated hypoparathyroidism Genetic hypoparathyroidism	NCT01922440	Disease registry	No	2013	Inactive	2013-2026	Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	1 339	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	11	Not available	Nova Scotia Ontario	Takeda	Chuo-ku, Tokyo, JP	www.takeda.com	Yes	clinicaltrials.takeda.com	clinicaltrials.takeda.com
Eosinophilic gastrointestinal disease Partners	EGID Partners registry	Eosinophilic gastrointestinal disorders	Not available	Disease registry	No	2020	Active	2020-UNKNOWN	Gastroenterological Diseases	Self-registration Online (e.g., online form) Patient organization(s) or patient advocacy group(s)	Children Adolescents Adults	over 900	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	23	Not available	Ontario	University of North Carolina at Chapel Hill School of Medicine	Chapel Hill, NC, USA	info_egidpartners@unc.edu	No	Not available	egidpartners.org
International Hereditary Thrombotic Thrombocytopenic Purpura Registry	International hTTP Registry	Thrombotic thrombocytopenic purpura	NCT01257269	Disease registry	No	2006	Active	2006-2030	Genetic Diseases Hematological Diseases Renal and Urological Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Children Adolescents Adults	254	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	19	Not available	Alberta	Insel Gruppe AG, University Hospital Bern	Bern, CH	support@ttpregistry.net	No	Not available	ttpregistry.net
International Kawasaki Disease Registry	IKDR	Kawasaki disease Multisystem inflammatory syndrome in children and adult	Not available	Disease registry	No	2013	Active	2013-UNKNOWN	Cardiovascular Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	4 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	Yes	Ontario Quebec	sickkids hospital	Toronto, ON, CA	Sunita Oshea, sunita.oshea@sickkids.ca	Yes	Sunita Oshea, sunita.oshea@sickkids.ca	www.ikds.org
International Registry For Pediatric Systemic Vasculitis Initiative	PedVas study	Granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis Polyarteritis nodosa Takayasu arteritis Primary angiitis of the central nervous system Unclassified vasculitis Urticarial Vasculitis	NCT02006134	Disease registry	No	2012	Active	2013-2025	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents	1 600	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	7	Yes	Alberta British Columbia Newfoundland and Labrador Nova Scotia Ontario Saskatchewan	University of British Columbia	Vancouver, BC, CA	pedvas@cw.bc.ca	Unknown	pedvas@cw.bc.ca	clinicaltrials.gov
International SCN8A Registry Research Study	Not available	SCN8A Developmental Epileptic Encephalopathy	Not available	Disease registry	No	2015	Active	2015-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	381	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	SCN8A Epilepsy and related disorders	University of Arizona in Tucson, AZ	info@scn8a.net	Unknown	info@scn8a.net	scn8a.net
mitoSHARE Registry	mito-SHARE	Mitochondrial disease	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Inherited Metabolic Disorders	Self-registration Online (e.g., online form)	Children Adolescents Adults	1 800	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Alberta British Columbia Manitoba New Brunswick Ontario Quebec Saskatchewan	United Mitochondrial Disease Foundation	Pittsburgh, PA,USA	registry@umdf.org	Unknown	registry@umdf.org	www.umdf.org
Pediatric Cardiomyopathy Registry	Not available	Dilated cardiomyopathy Hypertrophic cardiomyopathy	NCT00005391	Disease registry	No	1995	Inactive	1995-2010	Cardiovascular Diseases Genetic Diseases	Unknown	Children Adolescents	3 500	Unknown	International	2	Yes	Alberta	National Heart, Lung, and Blood Institute (NHLBI)	Bethesda, MD, USA	info@childrenscardiomyopathy.org	Yes	slipshul@buffalo.edu	www.childrenscardiomyopathy.org
The Duchenne Registry	Not available	Duchenne muscular dystrophy	Not available	Disease registry	No	2007	Active	2007-UNKNOWN	Cardiovascular Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	5 500	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	125	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Nova Scotia Ontario Prince Edward Island Quebec Saskatchewan Yukon	Parent Project Muscular Dystrophy	Washington, DC, USA	coordinator@duchenneregistry.org	Yes	coordinator@duchenneregistry.org	www.duchenneregistry.org
CHD2 – Data Collection Program	Not available	Epilepsy with myoclonic-atonic seizures Lennox-Gastaut syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	155	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	The Coalition To Cure CHD2	Naperville, IL, USA	rarexsupport@globalgenes.org	Yes	globalgenes.org	rare-x.org
Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy	MyCLIMB natural history	Dilated cardiomyopathy Restrictive cardiomyopathy Left ventricular noncompaction	NCT05112237	Disease registry	No	2021	Active	2021-2028	Cardiovascular Diseases Genetic Diseases	Referral from healthcare provide(s)	Children Adolescents	213	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	4	Yes	Alberta Ontario	Tenaya Therapeutics	South San Francisco, CA, USA	patient.advocacy@tenayathera.com	No	Not available	www.myclimbnhs.com
Rick Hansen Spinal Cord Injury Registry	RHSCIR	Spinal cord injury	Not available	Disease registry	No	2004	Active	2004-UNKNOWN	Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email) Referral from healthcare provide(s)	Adolescents Adults	11 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	4	Yes	Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Nova Scotia Ontario Quebec Saskatchewan	Praxis Spinal Cord Institute	Vancouver, BC, CA	RHSCIR@praxisinstitute.org	Yes	dataservices@praxisinstitute.org	praxisinstitute.org
The Canadian Sickle Cell Disease Registry	Not available	Sickle cell disease	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Genetic Diseases Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	No	Ontario	Ottawa Hospital Research Institute and The Sickle Cell Disease Association of Canada	Ottawa, ON, CA	Biba Tinga, bibatingascdac@gmail.com	Unknown	Biba Tinga, bibatingascdac@gmail.com	omc.ohri.ca
The World Federation of Hemophilia Gene Therapy Registry	WFH GTR Registry	Hemophilia A Hemophilia B	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.)	International	14	Yes	Ontario	World Federation of Hemophilia	Montreal, Qc, CA	gtr@wfh.org	Yes	wfh.org	wfh.org
GM1 Census	Not available	GM1 gangliosidosis GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3	Not available	Disease registry	Yes	2024	Active	2024-UNKNOWN	Bone and Musculoskeletal Diseases Genetic Diseases Inherited Metabolic Disorders Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	165	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.)	International	36	No	Unknown	CUREGM1 Foundation through CombinedBrain	Albany, CA, USA	info@curegm1.org	Unknown	info@curegm1.org	www.curegm1.org
GloBE-Reg registry	Not available	Turner Syndrome Acquired pituitary hormone deficiency Isolated growth hormone deficiency type IB Short stature due to GHSR deficiency Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired pituitary hormone deficiency 45,X/46,XY mixed gonadal dysgenesis Arachnoid cyst SHOX-related short stature Prader-Willi-like syndrome Silver-Russell Syndrome Primary bone dysplasia Hypochondroplasia Septo-optic dysplasia spectrum CHARGE syndrome Pallister-Hall syndrome	Not available	Disease registry	No	2022	Active	2022-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases Otorhinolaryngological Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	3000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	24	Yes	Unknown	Office for Rare Conditions at the University of Glasgow	Glasgow, Scotland, United Kingdom	info@globe-reg.net	Yes	globe-reg.net	globe-reg.net
Canadian Fontan Connection	CANFON	Hypoplastic left heart syndrome Tricuspid atresia Double outlet right ventricle Univentricular heart Pulmonary atresia with ventricular septal defect	Not available	Disease registry	No	2018	Active	2018-UNKNOWN	Cardiovascular Diseases	Self-registration Online (e.g., online form) Self-registration via direct contact (e.g., email)	Children Adults	583	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Lifestyle factors (e.g., Alcohol use, Diet, Frequency of exercise, Tobacco use, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	National	Not available	Yes	Alberta British Columbia Manitoba Newfoundland and Labrador Nova Scotia Ontario Quebec Saskatchewan	Canadian congenital and pediatric cardiology research network	Sherbrook, Qc, CA	registry@canadianfontan.com	Unknown	registry@canadianfontan.com	canadianfontan.com
International Pediatric Stroke Study	IPSS	Pediatric arterial ischemic stroke Cerebral sinovenous thrombosis Moyamoya disease Sickle cell disease Brain Arteriovenous Malformations	NCT00084292	Disease registry	No	2003	Active	2003-2030	Cardiovascular Diseases Genetic Diseases Hematological Diseases Neurological and Psychiatric Diseases	Identified through electronic medical records Referral from healthcare provide(s)	Children Adolescents	over 9 000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	34	No	Alberta British Columbia Manitoba Ontario Quebec	The Hospital for Sick Children	Toronto, ON, CA	ipss.research@sickkids.ca	Yes	internationalpediatricstroke.org	internationalpediatricstroke.org
Congenital Dyserythropoietic Anemia registry	CDAR	Congenital dyserythropoietic anemia	NCT02964494	Disease registry	Yes	2016	Active	2016-2031	Genetic Diseases Hematological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	10 000	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	2	No	Alberta	Children's Hospital Medical Center	Cincinnati, OH, USA	Theodosia Kalfa, theodosia.kalfa@cchmc.org	Unknown	Theodosia Kalfa, theodosia.kalfa@cchmc.org	clinicaltrials.gov
International database of Rett syndrome	InterRett database	Rett syndrome	Not available	Disease registry	No	2002	Active	2002-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	8	Yes	Unknown	The Kids Research Institute Australia	western australia, AU	Helen.Leonard@thekids.org.au	Yes	Helen.Leonard@thekids.org.au	rett.thekids.org.au
The International MECP2 Duplication Database	MDBase	Proximal Xq28 duplication syndrome	Not available	Disease registry	Yes	2020	Active	2020-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form) Through participation in existing research studies or clinical trials	Children Adolescents Adults	205	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	26	No	Unknown	The Kids Research Institute Australia	western australia, AU	Helen.Leonard@thekids.org.au	Yes	Helen.Leonard@thekids.org.au	rett.thekids.org.au
CARRA Registry & Biorepository	CARRA Registry	Juvenile idiopathic arthritis Systemic lupus erythematosus Juvenile dermatomyositis	NCT02418442	Disease registry	Yes	2015	Active	2015-2028	Renal and Urological Diseases Respiratory Diseases Rheumatological Diseases	Referral from healthcare provide(s)	Children Adolescents Adults	over 13 500	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	5	No	Alberta Manitoba Nova Scotia Ontario	Duke Clinical Research Institute	Durham, NC, US	research@carragroup.org	Yes	carragroup.org	carragroup.org
Fibrous Dysplasia/McCune-Albright Syndrome Patient Registry	FD/MAS Patient Registry	Fibrous dysplasia/McCune-Albright syndrome	Not available	Disease registry	No	2016	Active	2016-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Healthcare resource cost or utilization data (e.g., hospitalizations) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	FD/MAS Alliance	Bethesda, MD, USA	Kiran Murty, PI.registry@fibrousdysplasia.org	Yes	www.fdmasregistry.org	www.fdmasregistry.org
Genetic Cardiomyopathy Registry	GCR	Hypertrophic cardiomyopathy Dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Restrictive cardiomyopathy	Not available	Disease registry	No	2025	Active	2025-UNKNOWN	Cardiovascular Diseases Genetic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	137	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Genetic Cardiomyopathy Awareness Consortium	Dublin, OH, USA	patientquestions@geneticcardiomyopathy.org	Unknown	info@geneticcardiomyopathy.org	geneticcardiomyopathy.org
International Limb Differences Registry	ILDR	Mucopolysaccharidosis type 4B Osteogenesis imperfecta Blount disease Isolated fibular hemimelia Isolated congenital femoral bifurcation Isolated femoral agenesis/hypoplasia Isolated proximal femoral focal deficiency Congenital pseudoarthrosis of the tibia	Not available	Disease registry	No	2024	Active	2024-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Inherited Metabolic Disorders Ophthalmic Diseases	Patient organization(s) or patient advocacy group(s) Referral from healthcare provide(s)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	13	No	British Columbia Ontario	International Limb Differences Network	Vancouver, BC, CA	externalfixators@cw.bc.ca	No	Not available	www.limbnetwork.com
Global Registry for Inherited Neuropathies	GRIN	Autosomal dominant Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B PMP2-related Charcot-Marie-Tooth disease type 1	NCT05902351	Disease registry	No	2013	Active	2018-2029	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	10 000	Caregiver data (e.g., Family history) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	60	Yes	Unknown	Hereditary Neuropathy Foundation	New York, NY, US	www.hnf-cure.org	Yes	www.hnf-cure.org	www.hnf-cure.org
Gorlin Syndrome Alliance Patient Registry	Not available	Gorlin Syndrome	Not available	Disease registry	No	2021	Active	2021-UNKNOWN	Gastroenterological Diseases Genetic Diseases Inherited Metabolic Disorders Renal and Urological Diseases Respiratory Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	241	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Gorlin Syndrome Alliance with	Austin, TX, US	Jean Pickford; registry@gorlinsyndrome.org	Not available	Not available	gorlinsyndrome.iamrare.org
NR2F1 Patient Registry	Not available	Optic atrophy-intellectual disability syndrome	Not available	Disease registry	Yes	2022	Active	2022-UNKNOWN	Genetic Diseases Neurological and Psychiatric Diseases Ophthalmic Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	500	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	NR2F1 Foundation	Pflugerville, TX, US	patientregistry@nr2f1.org	Yes	www.nr2f1.org	www.nr2f1.org
The Global Schaaf-Yang Syndrome Registry	The Global SYS Registry	Schaaf-Yang syndrome	Not available	Disease registry	No	2025	Active	2025-UNKNOWN	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Reproductive System Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Unknown	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Health outcome data (e.g., disease progression, mortality) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Yes	Unknown	Foundation for Prader-Willi Research	Covina, CA, USA	Jessica Bohonowych, info@sysregistry.org	Not available	Not available	sysregistry.org
Wolfram Syndrome International Registry & Clinical Study	Not available	Wolfram syndrome	NCT02841553	Disease registry	No	2011	Active	2011-2027	Developmental anomalies during embryogenesis Endocrine Diseases Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Other	Children Adolescents Adults	5000	Caregiver data (e.g., Family history) Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Health outcome data (e.g., disease progression, mortality) Healthcare provider (e.g., name, specialty, practice location, contact information, etc.) Laboratory and Diagnostics data (e.g., genetic test, biomarkers, etc.) Patient reported outcomes (e.g., general health, comorbidities, psychological state, quality of life, etc.) Pregnancy and/or neonate data Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	Not available	Unknown	Washington University School of Medicine	St. Louis, MO, USA	wolframsyndrome@wustl.edu	No	Not available	wolframsyndrome.wustl.edu
CHAMP1 Registry	Not available	CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	200	Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	>30	No	Alberta New Brunswick Ontario Quebec	CHAMP1 Research foundation	FL, USA	info@champ1foundation.org	No	Not available	champ1foundation.org
Registre Québec 1000 familles	Registre Q1K	Hereditary thrombophilia due to congenital antithrombin deficiency Snijders Blok-Campeau syndrome Class I glucose-6-phosphate dehydrogenase deficiency 2q32q33 deletion syndrome SATB2-associated syndrome CHD8 overgrowth syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Lamb-Shaffer syndrome Keipert syndrome ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome Isolated childhood apraxia of speech Treacher-Collins syndrome Lymphedema with yellow nails CELSR1-related late-onset primary lymphedema Hao-Fountain syndrome Vitamin B12-responsive methylmalonic acidemia Coffin-Siris syndrome Sotos syndrome X-linked intellectual disability, Cantagrel type Menkes disease X-linked non-syndromic intellectual disability Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome Bainbridge-Ropers syndrome Luscan-Lumish syndrome Schuurs-Hoeijmakers syndrome KDM5C-related syndromic X-linked intellectual disability Myhre Syndrome ZTTK-related Disorders Acrodysostosis Autoimmune polyendocrinopathy type 1 White-Sutton syndrome Cornelia de Lange syndrome DeSanto-Shinawi Syndrome (DeSSH) DYRK1A-related intellectual disability syndrome HUWE1-related Disorders (X-linked intellectual disability, Turner type) GATAD2B-associated neurodevelopmental disorders	Not available	Disease registry	Yes	2018	Active	2018-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	Regional	Not available	Yes	Quebec	Centre universitaire de santé McGill	Montreal, Qc, Canada	Q1K@mcgill.ca	Yes	Q1K@mcgill.ca	q1k.ca
International Usher Syndrome Registry	USH trust	Usher syndrome	Not available	Contact registry	Not available	2011	Active	2011-UNKNOWN	Developmental anomalies during embryogenesis Genetic Diseases Ophthalmic Diseases Otorhinolaryngological Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	Not available	No	Unknown	Usher Syndrome Coalition	Westford, MA, USA	info@usher-syndrome.org	Unknown	info@usher-syndrome.org	www.usher-syndrome.org
International Cantu Syndrome Registry	ICSR	Cantú syndrome	Not available	Disease registry	No	2012	Active	2012-UNKNOWN	Bone and Musculoskeletal Diseases Developmental anomalies during embryogenesis Genetic Diseases Neurological and Psychiatric Diseases	Self-registration via direct contact (e.g., email)	Children Adolescents Adults	<100	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number)	International	Not available	No	Unknown	WashU Medicine Cantu Syndrome Interest Group	USA	Dorothy K. Grange, cantu-group@wustl.edu	Unknown	Not available	cantu.wustl.edu
PCDF Connect Registry	Not available	Primary ciliary dyskinesia	Not available	Contact registry	Not available	UNKNOWN	Active	UNKNOWN-UNKNOWN	Genetic Diseases Respiratory Diseases	Self-registration Online (e.g., online form)	Children Adolescents Adults	Not available	Clinical data (e.g., disease severity, medical history, medication history, diagnosis data, Clinical measurement etc.) Contact information (e.g., name, Email address, phone number) Sociodemographic information (e.g., age, sex, gender, ethnicity, country of origin, educational level, etc.)	International	3	No	Unknown	PCD Foundation	Rochester, NY, USA	info@pcdfoundation.org	No	Not available	www.pcdfoundation.org

Researchers

Patients and Families

Biotech and Industry

Participation Opportunities

Join Our Expertise Database

Partnership Opportunities

Contact Us

About