Guidance Documents and Resources for Rare Disease Registries

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Explore guidance documents and resources for your rare disease registry development and implementation. To learn more about how this database was developed, read our protocol and explore our data dictionary for variable definitions.

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Showing 67 records Updated 2026-09-15 14:53:48


Scoping review of the recommendations and guidance for improving the quality of rare disease registries	Tarride	Orphanet journal of rare diseases	10.1186/S13023-024-03193-Y	38711103	"The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs."	Not available	2024	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Recommendations for Improving the Quality of Rare Disease Registries	Kodra	International Journal of Environmental Research and Public Health	10.3390/IJERPH15081644	30081484	"A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries."	Not available	2018	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes	Ali	International Journal of Environmental Research and Public Health	10.3390/IJERPH17238743	33255540	"For the purpose of this paper, we highlight vital aspects of data access and data governance policies for RD registries, using the European Registries for Rare Endocrine Conditions (EuRRECa) as an example of a project that aims to promote good standards of practice for improving the quality of utilization of RD registries."	Not available	2020	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Joint Declaration of 10 Key Principles for Rare Disease Patient Registries	EURORDIS-NORD-CORD	Not available	Not available	Not available	"On behalf of an estimated 60 million people living with rare diseases in Europe and North America, the European Organisation for Rare Diseases (EURORDIS), the National Organization for Rare Disorders (NORD) and the Canadian Organization for Rare Disorders (CORD), jointly submit the following declaration on common principles regarding Rare Disease Patient Registries."	download2.eurordis.org	2012	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Committee for Human Medicinal Products (CHMP) Guideline on registry-based studies	European Medicines Agency	Not available	Not available	Not available	"The objective of this Guideline is to provide recommendations on key methodological aspects that are specific to the use of patient registries by marketing authorisation applicants and holders (MAAs/MAHs) planning to conduct registry-based studies."	www.ema.europa.eu	2021	Registry guidance	Registry specific	Registry developers/holders Registry users
So You Want to Build Your Disease's First Online Patient Registry: An Educational Guide for Patient Organizations Based on US and European Experience	Wicks	Patient	10.1007/S40271-023-00619-W/TABLES/7	36947286	"In this Education article, a team of co-authors from across patient advocacy, technology, privacy, and commercial perspectives who have worked on a number of such projects offer a "Registry 101" primer to help get started."	Not available	2023	Registry guidance	Registry specific	Registry developers/holders
Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations	Mordenti	Frontiers in Pharmacology	10.3389/fphar.2022.966081	36210847	"The present study aims to highlight the key stages performed for remodeling the existing Registry of Multiple Osteochondromas-REM into a tool consistent with EMA observations and recommendations, as well as to lead the readers through the entire adapting, remodeling, and optimizing process. The process included a variety of procedures that can be summarized into three closely related categories: semantic interoperability, data quality, and governance."	Not available	2022	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
CIHI's Information Quality Framework	Canadian Institute for Health Information	Not available	Not available	Not available	"This document provides an overview of CIHI's Information Quality Framework. This framework provides an overarching structure for all of CIHI's quality management practices related to capturing and processing data and transforming it into information products. This Information Quality Framework evolved from and replaces CIHI's previous Data Quality Framework (which was introduced in 2001 and last updated in 2009)."	www.cihi.ca	2024	Data quality/management	Generic	Registry developers/holders
Assessing Real-World Data Quality: The Application of Patient Registry Quality Criteria to Real-World Data and Real-World Evidence	Gliklich	Therapeutic Innovation and Regulatory Science	10.1007/S43441-019-00058-6/METRICS	32072577	"Patient registries are an important source of real-world data and real-world evidence. The good practices and evaluation criteria developed for patient registries are highly relevant to real-world data and real-world evidence and offer a foundation for a unified set of quality criteria that can be applied across sources of real-world data and real-world evidence intended for use in medical product evaluation."	Not available	2020	Data quality/management	Registry specific	Registry developers/holders
The de novo FAIRification process of a registry for vascular anomalies	Groenen	Orphanet Journal of Rare Diseases	10.1186/S13023-021-02004-Y/FIGURES/1	34481493	"We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception-de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data."	Not available	2021	Data quality/management Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Guidance on a data quality framework for health and social care	Health Information and Quality Authority	Not available	Not available	Not available	"This Guidance on a data quality framework for health and social care aims to provide organisations with the necessary tools to systematically assess, monitor, evaluate and improve data quality, which is a fundamental requirement for a safe and reliable healthcare system."	www.hiqa.ie	2018	Data quality/management	Generic	Registry developers/holders
Towards a Core Set of Indicators for Data Quality of Registries	Harkener	Studies in Health Technology and Informatics	10.3233/SHTI190803	31483252	"Registries are a widely accepted method in health services research. Registry owners are faced with the challenge to document and assure data quality, vital for answering research questions and conducting quality research. Therefore a survey on indicators for data quality was conducted as part of a German funding initiative."	Not available	2019	Data quality/management	Registry specific	Registry developers/holders
Development of a framework to assess the quality of data sources in healthcare settings	Hooshafza	Journal of the American Medical Informatics Association : JAMIA	10.1093/JAMIA/OCAC017	35190833	"The purpose of this study was to develop a framework to assess the quality of healthcare data sources."	Not available	2022	Data quality/management	Generic	Registry developers/holders
Methodological guidelines and recommendations for efficient and rational governance of patient registries	Zaletel	Not available	Not available	Not available	"The PARENT JA team is proud to present the Guidelines, which were created to provide practical and 'hands on' advice to set up and manage patient registries as well as to enable secondary use of data for public health policy and research."	health.ec.europa.eu	2016	Registry guidance	Registry specific	Registry developers/holders
National information system for rare diseases with an approach to data architecture: A systematic review	Derayeh	Intractable & Rare Diseases Research	10.5582/IRDR.2018.01065	30181934	"The study aims to systematically review literature on the rare diseases information system to identify architecture of this system from a data perspective."	Not available	2018	Registry guidance Data quality/management	Rare disease specific	Registry developers/holders
EUCERD Core Recommendations on Rare Disease patient registration and data collection	European Union Committee of Experts on Rare Diseases	Not available	Not available	Not available	"This page is an archive of the EUCERD and ECEGRD's activities and information concerning the work of the EUCERD Joint Action (N° 2011 22 01, co-funded by the EU Health Programme)."	health.ec.europa.eu	2013	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Preparing data at the source to foster interoperability across rare disease resources	Roos	Advances in Experimental Medicine and Biology	10.1007/978-3-319-67144-4_9/FIGURES/2	29214571	"This chapter presents an approach to preparing rare disease data for integration through the application of a global standard for computer-readable data and knowledge. This includes the use of common data elements, ontological codes and computer-readable data."	Not available	2017	Interoperability beyond core data elements	Rare disease specific	Registry developers/holders
FAIRVASC: A semantic web approach to rare disease registry integration	McGlinn	Computers in Biology and Medicine	10.1016/J.COMPBIOMED.2022.105313	35405400	"A federated querying approach is presented for accessing aggregated and pseudonymized data, and which supports analysis of AAV data in a manner which protects patient privacy."	Not available	2022	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer	Sernadela	BioMed Research International	10.1155/2017/8327980	29214177	"Developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries."	Not available	2017	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data	Kaliyaperumal	Journal of Biomedical Semantics	10.1186/S13326-022-00264-6/FIGURES/6	35292119	"The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non- coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 16 Common Data Elements (CDEs) that should be implemented by all RD registries. Interoperability, however, requires decisions beyond data elements – including data models, formats, and semantics. Within the European Joint Programme on Rare Diseases (EJP RD), we aim to further the goals of the EU RD Platform by generating reusable RD semantic model templates that follow the FAIR Data Principles."	Not available	2022	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration	Taruscio	Archives of Public Health	10.1186/2049-3258-72-35/TABLES/1	25352985	"The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections."	Not available	2014	Common data elements	Rare disease specific Registry specific	Registry developers/holders
The NIH Office of Rare Diseases Research Patient Registry Standard: A Report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry	Daneshvari	Not available	Not available	24551336	"Recently, the NIH Office of Rare Diseases Research created a rare disease registry Standard to facilitate research across multiple registries. We implemented the Standard for the Oculopharyngeal Muscular Dystrophy patient registry created at the University of New Mexico Health Sciences Center. We performed a data element analysis for each Common Data Element defined in the Standard."	Not available	2013	Common data elements	Rare disease specific Registry specific	Registry developers/holders
NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection	Rubinstein	Contemporary Clinical Trials	10.1016/J.CCT.2015.03.003	25797358	"The main goal of the NIH/NCATS GRDR® program is to serve as a central web-based global data repository to integrate de-identified patient clinical data from rare disease registries, EHR, clinical data and other data sources, in a standardized manner, to be available to researchers for conducting various biomedical studies, including clinical trials and to support analyses within and across diseases. The aim of the program is to advance research for many rare diseases and, by extension, common diseases as well. One of the first tasks toward achieving this goal was the development of a set of Common Data Elements (CDEs), which are controlled terminologies that represent collected data."	Not available	2015	Common data elements	Rare disease specific Registry specific	Registry developers/holders
International Harmonisation of Real-World Evidence Terminology and Convergence of 3 General Principles Regarding Planning and Reporting of Studies Using Real-World Data, with a Focus on Effectiveness of Medicines	International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use	Not available	Not available	Not available	"This Reflection Paper outlines a strategic approach for ICH to address some of these challenges. The goal is to further enable the integration of RWE into regulatory submissions and timely regulatory decision-making."	www.ema.europa.eu	2023	Registry guidance	Generic	Registry developers/holders Registry users
Standardized Data Structures in Rare Diseases: CDISC User Guides for Duchenne Muscular Dystrophy and Huntington's Disease	Mullin	Clinical and Translational Science	10.1111/CTS.12845	32702147	"Use of international data standards can assist in data harmonization and enable data exchange, integration into larger data- sets, and a quantitative understanding of disease natural history. The US Food and Drug Administration (FDA) requires the use of Clinical Data Interchange Consortium (CDISC) Standards in new drug submissions to help the agency efficiently and effectively receive, process, review, and archive submissions, as well as to help integrate data to answer research questions."	Not available	2021	Interoperability beyond core data elements	Rare disease specific	Registry developers/holders
Development and Pilot Test of the Registry Evaluation and Quality Standards Tool: An Information Technology-Based Tool to Support and Review Registries	Allen	Value in Health	10.1016/J.JVAL.2021.12.018	35277336	"The European Network for Health Technology Assessment Joint Action 3 led the work to develop a tool for the evaluation of clinical registries: the "Registry Evaluation and Quality Standards Tool" (REQueST)."	Not available	2022	Registry guidance	Registry specific	Registry developers/holders
An assessment of the quality of the I-DSD and the I-CAH registries – international registries for rare conditions affecting sex development	Kourime	Orphanet Journal of Rare Diseases	10.1186/S13023-017-0603-7/FIGURES/6	28320446	"This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses."	Not available	2017	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Capturing Data in Rare Disease Registries to Support Regulatory Decision Making: A Survey Study Among Industry and Other Stakeholders	Jonker	Drug Safety	10.1007/S40264-021-01081-Z	34091881	"The objective of this study was to investigate the opinion of stakeholders about key aspects of rare disease registries that are used to support regulatory decision making and to compare the responses of employees from industry to other stakeholders."	Not available	2021	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Discussion paper: Use of patient disease registries for regulatory purposes – methodological and operational considerations	European Medicines Agency	Not available	Not available	Not available	"The objective of this paper is to discuss methodological and operational aspects of patient disease registries."	www.eucope.org	2018	Registry guidance	Registry specific	Registry developers/holders Registry users
The Six Primary Dimensions For Data Quality Assessment, Defining Data Quality Dimensions	DAMA U.K. Working Group	Not available	Not available	Not available	"In May 2012, DAMA UK asked for volunteers to join a working group to consider the issue and produce some best practice advice."	www.sbctc.edu	2013	Data quality/management	Generic	Registry developers/holders
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers	Gainotti	European journal of human genetics : EJHG	10.1038/S41431-017-0085-Z	29396563	"Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to ﬁnd RD biobanks and registries and provide information on the availability and accessibility of content in each database."	Not available	2018	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders Registry users
A Quality Assessment of the ARM-Net Registry Design and Data Collection	Hageman	Journal of Pediatric Surgery	10.1016/J.JPEDSURG.2023.02.049	37045715	"The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience."	Not available	2023	Data quality/management	Rare disease specific Registry specific	Registry developers/holders
Data Quality Framework for EU medicines regulation	European Medicines Agency	Not available	Not available	Not available	"This document is the first release of the EU Data Quality Framework (DQF) for medicines regulation and defines high-level principles and procedures that apply across EMA's regulatory mandate. This framework provides general considerations on data quality that are relevant for regulatory decision making, definitions for data quality dimensions and sub-dimensions, as well as their characterisation and related metrics."	www.ema.europa.eu	2023	Data quality/management	Generic	Registry developers/holders
Guidance for Reporting Real-World Evidence	Canada's Drug Agency	Not available	Not available	Not available	"Guidance for Reporting Real-World Evidence lays the foundation for the use of RWE in regulatory approval and Health Technology Assessment (HTA) in Canada, starting with the principles for reporting of RWE studies. CADTH, Health Canada, and INESSS intend to use the guidance as appropriate for their individual needs, aligned to the principles outlined in the document. This initiative forms the foundation for transparent reporting of RWE studies in Canada and facilitates appraisal of RWE for the purpose of supporting decision-making."	www.cda-amc.ca	2023	Registry guidance	Generic	Registry developers/holders Registry users
Rare Diseases: Considerations for the Development of Drugs and Biological Products	U.S. Food and Drug Administration	Not available	Not available	Not available	"The purpose of this guidance is to assist sponsors of drugs for the treatment of rare diseases in conducting efficient and successful drug development programs."	www.fda.gov	2023	Registry guidance	Rare disease specific	Registry developers/holders
Real-World Data: Assessing Registries To Support Regulatory Decision-Making for Drug and Biological Products	U.S. Food and Drug Administration	Not available	Not available	Not available	"This guidance provides considerations for sponsors proposing to design a new registry or use an existing registry to support regulatory decision-making about a drug's effectiveness or safety."	www.fda.gov	2023	Registry guidance	Registry specific	Registry developers/holders
Rare Diseases: Natural History Studies for Drug Development	U.S. Food and Drug Administration	Not available	Not available	Not available	"This guidance is intended to help inform the design and implementation of natural history studies that can be used to support the development of safe and effective drugs and biological products for rare diseases."	www.fda.gov	2019	Registry guidance	Rare disease specific	Registry developers/holders
Contribution of patient registries to regulatory decision making on rare diseases medicinal products in Europe	Jonker	Frontiers in pharmacology	10.3389/FPHAR.2022.924648	35991868	"In this review, we illustrate the utility of patient registries across the different stages of development of medicinal products, including orphans, to provide evidence in the context of clinical studies and to generate post-authorisation long term data on their effectiveness and safety proﬁles."	Not available	2022	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Natural History and Real-World Data in Rare Diseases: Applications, Limitations, and Future Perspectives	Liu	The Journal of Clinical Pharmacology	10.1002/JCPH.2134	36461748	"This review provides an introduction to rare diseases, natural history data, RWD, and real-world evidence, the respective sources and applications of these data in several rare diseases."	Not available	2022	Registry guidance	Rare disease specific	Registry developers/holders
Rare disease registries: potential applications towards impact on development of new drug treatments	Jansen-Van Der Weide	Orphanet journal of rare diseases	10.1186/S13023-018-0836-0	30185208	"We describe the potential applications of a RDR and what type of information should be incorporated to support the design of clinical trials in the process of drug development, based on a broad inventory of registry experience. We evaluated two existing RDRs in more detail to check the completeness of these RDRs for trial design."	Not available	2018	Registry guidance	Rare disease specific Registry specific	Registry developers/holders Registry users
Use of real-world evidence in regulatory decisions for rare diseases in the United States-Current status and future directions	Wu	Pharmacoepidemiology and Drug Safety	10.1002/PDS.4962	32003065	"We use three case examples-cerliponase alfa, asfotase alfa, and uridine triacetate-to illustrate how RWD from disease registries, medical records with chart review, and literature, respectively, have been used to generate RWE to support regulatory decisions for selected rare diseases."	Not available	2020	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Balancing the Optimal and the Feasible: A Practical Guide for Setting Up Patient Registries for the Collection of Real-World Data for Health Care Decision Making Based on Dutch Experiences	de Groot	Value in Health	10.1016/J.JVAL.2016.02.007	28408005	"The aim of this article was to provide practical guidance in setting up patient registries to facilitate real-world data collection for health care decision making."	Not available	2017	Registry guidance	Registry specific	Registry developers/holders
Identifying the capabilities for creating next-generation registries: a guide for data leaders and a case for "registry science"	Labkoff	Journal of the American Medical Informatics Association	10.1093/JAMIA/OCAE024	38400744	"The article provides an outline of the technology roles and responsibilities needed for successful implementations of next-generation registries."	Not available	2024	Registry guidance	Registry specific	Registry developers/holders
Guide to Developing a National Patient Registry	World Federation of Hemophilia	Not available	Not available	Not available	"This guide explains what a registry is, identifies the different types of registries that have been used successfully around the world, details the steps involved in setting up and maintaining an effective national patient registry, and discusses how to use the valuable data contained in a registry"	www1.wfh.org	2005	Registry guidance	Registry specific	Registry developers/holders
A Framework for Integrating Heterogeneous Clinical Data for a Disease Area into a Central Data Warehouse	Karmen	Studies in Health Technology and Informatics	10.3233/978-1-61499-432-9-1060	25160351	"In this paper we describe a framework how to approach an integration of heterogeneous clinical data into a central register. This enables site-spanning queries for the occurrence of specific clinical facts and thus supports clinical research. The framework consists of three sequential steps, starting from a formal data harmonization process, to the data transformation methods and finally the integration into a proper data warehouse."	Not available	2014	Interoperability beyond core data elements	Registry specific	Registry developers/holders
The creation of an adaptable informed consent form for research purposes to overcome national and institutional bottlenecks in ethics review: experience from rare disease registries	Landi	Frontiers in Medicine	10.3389/FMED.2024.1384026/BIBTEX	38695032	"The aim of this work is to develop an adaptable ICF for research purposes to be used in ERN registries."	Not available	2024	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Generalizable EHR-R-REDCap pipeline for a national multi-institutional rare tumor patient registry	Shalhout	JAMIA Open	10.1093/JAMIAOPEN/OOAB118	35156001	"Objective: To develop a clinical informatics pipeline designed to capture large-scale structured Electronic Health Record (EHR) data for a national patient registry."	Not available	2022	Registry platform Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Construction and management of ARDS/sepsis registry with REDCap	Pang	Journal of Thoracic Disease	10.3978/J.ISSN.2072-1439.2014.09.07	25276372	"Objective: The study aimed to construct and manage an acute respiratory distress syndrome (ARDS)/sepsis registry that can be used for data warehousing and clinical research."	Not available	2014	Registry platform	Rare disease specific Registry specific	Registry developers/holders
Using a Web-Based Data Collection Platform to Implement an Effective Electronic Patient-Reported Outcome Registry	Lizzio	Arthroscopy Techniques	10.1016/J.EATS.2019.01.012	31334007	"This technique guide presents an overview of designing and implementing a PROM- based clinical registry for the ambulatory orthopaedic clinic using Research Electronic Data Capture (REDCap Vanderbilt University, Nashville, TN). We outline the basic steps of creating a simple but effective patient registry using this accessible data collection platform."	Not available	2019	Registry platform	Registry specific	Registry developers/holders
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases	Schoenmakers	Neurology	10.1212/WNL.0000000000209743	39173102	"This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework."	Not available	2024	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders	Lochmüller	Orphanet Journal of Rare Diseases	10.1186/S13023-021-01687-7	33743771	"We developed the concept of Disease Monitoring Programs (DMPs), which are designed to monitor disease manifestations over a 10-year period whether on a sponsored drug or not, and ensure consistent collection, ownership sharing and governance of data."	Not available	2021	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children	Vanderhout	Research Involvement and Engagement	10.1186/S40900-021-00304-Y/FIGURES/1	34521478	"In this paper, as researchers and patient partners, we provide a resource for COS developers to meaningfully and effectively engage patients and families."	Not available	2021	Common data elements	Rare disease specific	Registry developers/holders
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	Hageman	Orphanet Journal of Rare Diseases	10.1186/S13023-023-02719-0	37147718	"We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries."	Not available	2023	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Registries for Evaluating Patient Outcomes: A User's Guide	Gliklich	Agency for Healthcare Research and Quality (AHRQ)	10.23970/AHRQEPCREGISTRIES4	24945055	"The purpose of this revised fourth edition is to incorporate information on new methodological and technological advances into the existing chapters and to consolidate and organize the content into a format that emphasizes the key principles of registry design, operations, and analysis."	Not available	2020	Registry guidance	Registry specific	Registry developers/holders
Transferability of real-world data across borders for regulatory and health technology assessment decision-making	Jaksa	Frontiers in Medicine	10.3389/FMED.2022.1073678	36465931	"We therefore performed a review of stakeholder guidance as well as selected case studies to identify themes for researchers to consider when transferring RWD from one jurisdiction to another."	Not available	2022	Interoperability beyond core data elements	Generic	Registry developers/holders
Record linkage based patient intersection cardinality for rare disease studies using Mainzelliste and secure multi-party computation	Kussel	Journal of Translational Medicine	10.1186/S12967-022-03671-6/FIGURES/5	36209221	"To alleviate this problem and to support rare disease research, we developed the Mainzelliste Secure EpiLinker (MainSEL) record linkage framework, a secure Multi-Party Computation based application using trusted-third-party-less cryptographic protocols to perform privacy-preserving record linkage with high security guarantees."	Not available	2022	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles	Buske	Human mutation	10.1002/HUMU.22850	26255989	We present the Matchmaker Exchange Application Programming Interface (MME API), a protocol and data format for exchanging phenotype and genotype proﬁles to enable matchmaking among patient databases, facilitate the identiﬁcation of additional cohorts, and increase the rate with which rare diseases can be researched and diagnosed."	Not available	2015	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Cross-Border Exchange of Clinical Data Using Archetype Concepts Compatible with the International Patient Summary	Tcharaktchiev	Studies in health technology and informatics	10.3233/SHTI200221	32570444	"This paper proposes an approach and demonstrates its application for cross- border exchange of clinical documents oriented towards the use of archetype concepts and international patient summary standards adopted in the European Union."	Not available	2020	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review	Ombashi	Orphanet Journal of Rare Diseases	10.1186/S13023-023-02901-4	37735442	"This review aimed to provide a scientific basis for the conceptualization of this registry by studying previous registry initiatives."	Not available	2023	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry	Scheible	JMIR medical informatics	10.2196/17420	33026355	"Data from the PID-NET registry should be made available in an interoperable manner without losing data sovereignty by extending the existing custom software of the registry using the OSSE registry framework."	Not available	2020	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
How to establish and sustain a disease registry: insights from a qualitative study of six disease registries in the UK	Stubbs	BMC medical informatics and decision making	10.1186/S12911-024-02775-X/TABLES/3	39604990	"We examined experiences of existing UK disease registries to understand barriers and enablers to establishing and sustaining a register, and how these have changed over time."	Not available	2024	Registry guidance	Registry specific	Registry developers/holders
The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases	Marques	Frontiers in Neurology	10.3389/FNEUR.2019.01182/BIBTEX	31798515	"The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reﬂect on lessons learnt that may guide future registries in rare and complex diseases."	Not available	2019	Registry guidance	Rare disease specific Registry specific	Registry developers/holders
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability	Graefe	medRxiv	10.1101/2025.05.09.25327342	40385395	", we developed and validated RareLink, an open-source framework implementing our previously-published ontology-based rare disease common data model, enabling standardised data exchange between REDCap, international registries, and downstream analysis tools."	Not available	2025	Interoperability beyond core data elements	Rare disease specific Registry specific	Registry developers/holders
The Minimum Data Set for Rare Diseases: Systematic Review	Andrade Bernardi	Journal of Medical Internet Research	10.2196/44641	37498666	"This study aimed to identify and analyze the Minimum Data Sets used for RD in health care networks worldwide and compare them with World Health Organization (WHO) guidelines."	Not available	2023	Common data elements	Rare disease specific	Registry developers/holders
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research	Choquet	Journal of the American Medical Informatics Association : JAMIA	10.1136/AMIAJNL-2014-002794	25038198	"To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD."	Not available	2015	Common data elements	Rare disease specific	Registry developers/holders
Achieving Data Liquidity: Lessons Learned from Analysis of 38 Clinical Registries (The Duke-Pew Data Interoperability Project	Tcheng	AMIA Annual Symposium Proceedings	Not available	32308883	"To assess the current state of clinical data interoperability, we evaluated the use of data standards across 38 large professional society registries."	Not available	2020	Interoperability beyond core data elements	Registry specific	Registry developers/holders
Minimum National Rare Disease Dataset (MDDS)	Banque Nationale de Données Maladies Rares	Not available	Not available	Not available	"A minimum national rare disease dataset (MDDS) common to all stakeholders and all diseases has been defined to enable the structured collection of high-quality, usable data across the country. This dataset must be collected from every patient with a rare disease seen at a rare disease reference or expertise center."	www.bndmr.fr	2024	Common data elements	Rare disease specific	Registry developers/holders

Filters

Initiative/Organization Category Number of registries hosted on the platform Number of rare disease registries hosted on the platform Multilingual platform Canadian-led platform Types of data supported on the platform Data security described on the platform's public website Inventory updated in the last two years Inventory geographical reach (Note: we have specifically searched on Canadian, American, and European initiatives) Inventory publicly available Inventory self-enrollment available Patient and Family Partners or Patient Organizations involved in guidance development Scope of common data elements initiative Patient and Family Partners or Patient Organizations involved in common data elements development Measurement tools described for common data elements Canada’s Drug Agency (CDA) Best Practices and Standards to Enhance the Quality of Rare Disease Registries in Canada Tag Type of Resource Year of Initiative/Organization Establishment Audience Geographical origin of the resource (Note: we have specifically searched on Canadian, American, and European initiatives). Other Geographical Origin Current Status (as of January 2026)

Columns

Showing 47 records Updated 2026-09-15 14:53:49


Canada's Drug Agency (CDA) Rare Disease-Based Registries Initiative	"Canada's Drug Agency is undertaking a series of activities that will help lay the foundation for improved generation of, and access to, real-world data from rare disease-based registries. A key aim of this work is to help generate fit-for-purpose decision-grade real-world evidence to better address regulatory, health technology assessment (HTA), and payer evidence gaps throughout the drug life cycle. Key activities involve: 1. Developing an inventory of rare disease registries in Canada 2. Establishing registry standards and best practices 3. Testing existing registries for HTA readiness"	www.cda-amc.ca doi.org www.cda-amc.ca www.cda-amc.ca www.cda-amc.ca	Canada's Drug Agency (CDA) Rare Disease-Based Registries Initiative.pdf	Registry guidance Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	International	Yes	Yes	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards Information Technology Infrastructure Best Practices and Standards	Rare disease specific Registry specific	2024	Registry developers/holders Registry users	Canada	Not available	Active
Clinical Data Interchange Standards Consortium (CDISC) – Rare Diseases Therapeutic Area User Guide	"Clinical Data Acquisition Standard Harmonization (CDASH) establishes a standard way to collect data consistently across studies and sponsors so that data collection formats and structures provide clear traceability of submission data into the Study Data Tabulation Model (SDTM), delivering more transparency to regulators and others who conduct data review. Therapeutic Area User Guides (TAUGs) extend the Foundational Standards to represent data that pertain to specific indications within disease areas. CDISC Standards and TAUGs specify how to structure the data they do not specify what data should be collected or how to conduct clinical trials, assessments or endpoints."	www.cdisc.org rarediseases.org www.cdisc.org doi.org	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific	2023	Registry developers/holders	United States	Not available	Active
Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) by the Critical Path Institute (CPI)	"Critical Path Institute's Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) is an FDA-funded initiative that provides a centralized and standardized infrastructure to support and accelerate rare disease characterization, with the goal of accelerating the development of treatments and cures for rare diseases. RDCA-DAP houses integrated patient-level data from diverse sources, including clinical trials, longitudinal observational studies, patient registries and real-world data (e.g. electronic health records) across a multitude of rare diseases."	c-path.org portal.rdca.c-path.org rarediseases.org	Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) by the Critical Path Institute (CPI).jpg	Registry platform Interoperability beyond core data elements	63	63	Not available	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered Genomic data Imaging data Other	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2021	Registry developers/holders	United States	Not available	Active
Rare Diseases Registry Program (RaDaR) (NIH Office of Rare Disease Research)	"The Rare Diseases Registry Program (RaDaR) website was created to provide advice on setting up and maintaining good-quality registries for rare diseases to stimulate research. RaDaR enables collaborative sharing of information and tools to promote data standardization and integration from the earliest stages of registry development. RaDaR is not involved in collecting or storing patient data."	ncats.nih.gov registries.ncats.nih.gov	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Rare disease specific Registry specific	2019	Registry developers/holders	United States	Not available	Active
The FAIR Data Principles (Wilkinson 2016)	"FAIR – a set of guiding principles to make data Findable, Accessible, Interoperable, and Reusable."	doi.org pubmed.ncbi.nlm.nih.gov doi.org www.ejprarediseases.org www.go-fair.org	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Generic	2016	Registry developers/holders	International	Not available	Time-limited
European Platform on Rare Disease Registration (EU RD Platform) Common Data Elements	"In partnership with various European organizations, EU RD developed 16 data elements to be registered by each rare disease registry across Europe, which are considered to be essential for further research. They refer to patient's personal data, diagnosis, disease history and care pathway, information for research purposes and about disability."	eu-rd-platform.jrc.ec.europa.eu doi.org doi.org	European Platform on Rare Disease Registration (EU RD Platform) Common Data Elements.pdf	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	All rare diseases	Not available	No	Data Best Practices and Standards	Rare disease specific Registry specific	2019	Registry developers/holders	Europe	Not available	Time-limited
European Rare Disease Registry Infrastructure (ERDRI) by the EU RD Platform	"Renders rare disease registries' data searchable and findable. This is achieved through the provision of following components: European Directory of Registries (ERDRI.dor-registry of registries), Central Metadata Repository (ERDRI.mdr-stires metadata on data elements for interoperability), Pseudonymization Tool (ERDRI.spider-generates pseudonyms and allows linking and transferring of patient's data), Search broker (ERDRI.sebro-allows users to retrieve metadata of interest from participating registries)."	eu-rd-platform.jrc.ec.europa.eu eu-rd-platform.jrc.ec.europa.eu eu-rd-platform.jrc.ec.europa.eu eu-rd-platform.jrc.ec.europa.eu eu-rd-platform.jrc.ec.europa.eu	European Rare Disease Registry Infrastructure (ERDRI) by the EU RD Platform.pdf	Interoperability beyond core data elements Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Europe	Yes	Yes	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2019	Registry developers/holders Registry users	Europe	Not available	Active
European Medicines Agency (EMA) Initiative for Patient Registries	"Aims at improving the use of existing registries for regulatory decision-making and to facilitate the establishment of high-quality new registries if no adequate source of post-authorization data already exists. 1. Guideline on registry-based studies 2. Inventory of registries 3. Stakeholder collaboration and workshop reports and disease specific workshops (CDE's, consent, governance, data sharing)"	www.ema.europa.eu www.ema.europa.eu catalogues.ema.europa.eu	European Medicines Agency (EMA) Initiative for Patient Registries.pdf	Registry guidance Interoperability beyond core data elements Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	International	Yes	Yes	Not available	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2015	Registry developers/holders Registry users	Europe	Not available	Active
European Joint Program on Rare Diseases (EJP RD)	"Developed an informed consent form template for the European Reference Networks (ERN's) to address Ethical, Legal and Social Implications (ELSI) issues (specifically GDPR compliance) and provide a harmonized framework for ERN registry exploitation approval. The Virtual Platform (VP) is a growing network of Findable, Accessible, Interoperable and Reusable (FAIR) resources, ready to serve the rare disease (RD) research community. It includes catalogues of resources, registries, biobanks, knowledge bases and tools compliant with agreed standards. The core model is designed to represent data about a rare disease patient and biosample registries. The model is based on and builds on existing standards, such as the European Rare Disease Registry Infrastructure and the Common Data Elements from the rare disease community and other more generalised standards for data sharing such as the W3C DCAT vocabulary."	www.ejprarediseases.org github.com github.com www.ejprarediseases.org www.oaepublish.com	Not available	Registry guidance Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Rare disease specific Registry specific	2019	Registry developers/holders Registry users	Europe	Not available	Time-limited
United States Food & Drug Administration (FDA) Guidance Documents for Rare Disease Registry Drug Development	"Guidance documents for rare disease drug development and best practices for using real-world data/evidence."	www.fda.gov www.fda.gov	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Rare disease specific Registry specific	2019	Registry developers/holders Registry users	United States	Not available	Active
European Rare Diseases Research Alliance (ERDERA)	"To improve the health and well-being of persons living with a rare disease in Europe. (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training)."	erdera.org erdera.org	European Rare Diseases Research Alliance (ERDERA).pdf	Registry guidance Common data elements Interoperability beyond core data elements Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Europe	Yes	No	Yes	Not available	Yes	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Rare disease specific	2024	Registry developers/holders	Europe	Not available	Active
IAMRARE by the National Organization for Rare Disorders (NORD)	"NORD's IAMRARE Program is an easy to use system that allows patients and organizations to inform and shape medical research and translational science for rare diseases by launching high-quality, customized registries to collect the data needed to define the natural progression of their disease – ultimately advancing product development."	rarediseases.org iamrare.org	Not available	Registry platform	70	70	Yes	No	Patient/caregiver-reported surveys Genomic data Other	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2014	Registry developers/holders	United States	Not available	Active
Coordination of Rare Diseases at Sanford (CoRDS)	"Based at Sanford Research, a nonprofit research institution, CoRDS is a centralized international patient registry for all rare diseases. We coordinate the advancement of research into more than 10,000 rare diseases. We connect researchers and patients and notify our participants of emerging clinical trials. Participants can enroll for free and researchers can access it for free."	research.sanfordhealth.org clinicaltrials.gov www.rarediseaseadvisor.com research.sanfordhealth.org	Not available	Registry platform	114	114	Yes	No	Patient/caregiver-reported surveys Genomic data Other	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2010	Registry developers/holders	United States	Not available	Active
Rare Disease Registry Framework (RDRF) by Centre for Comparative Genomics, Murdoch University, Western Australia	"The Rare Disease Registry Framework (RDRF) is an open source tool for the creation of web-based patient registries. What makes it unique is that data entry forms and questionnaires are based on reusable data element definitions (called "Common Data Elements") which can be created and/or loaded into the system at runtime. This means that registries can be created and modified without changes to the source code. RDRF has been developed at the Centre for Comparative Genomics, Murdoch University, Western Australia."	muccg.github.io github.com doi.org	Not available	Registry platform	NA	NA	Not available	No	Not available	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	NA	Registry developers/holders	Other	Australia	Time-limited
Vitrosoftware VitroRareDis	"VitroRareDis is a full Rare Disease Management System providing all the clinical data required for clinical trials and Health Technology Assessments and includes a rare disease specific branching registry."	www.vitrosoftware.com	Not available	Registry platform	NA	NA	Not available	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2006	Registry developers/holders	Europe	Not available	Active
International Rare Diseases Research Consortium (IRDiRC)	"International consortium aiming to ensure that synergies and complementarities of rare disease research at an international level can be achieved."	irdirc.org	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2011	Registry developers/holders	United States Europe	Not available	Active
NIH/NCATS Global Rare Diseases Patient Registry Data Repository	"The main goal of the NIH/NCATS GRDR program is to serve as a central web-based global data repository to integrate de-identified patient clinical data from rare disease registries, and other data sources, in a standardized manner, to be available to researchers for conducting various biomedical studies, including clinical trials and to support analyses within and across diseases."	avillach-lab.hms.harvard.edu doi.org	Not available	Common data elements Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	All rare diseases	Yes	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2010	Registry developers/holders	United States	Not available	Retired
Data Management and Coordinating Center Rare Diseases Clinical Research Network (RDCRN)	"Data Management Core: -Management system for collection, storage, and quality control of Network-derived research data -A web-based platform that allows for real-time tracking of data quality and completeness and that facilitates remote monitoring -A portal and tools for research scientists and clinicians to access and manage their own data -A portal and tools to share information both within and outside of the RDCRN in a manner that meets all local, federal, and international human subjects protection, data safety and data sharing requirements -Cloud computing services and engineering support for facilitating computing and data services across the Network and to the broader research community"	ncats.nih.gov www.rarediseasesnetwork.org www.rarediseasesnetwork.org www.rarediseasesnetwork.org	Not available	Data quality/management	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific	2003	Registry developers/holders	United States	Not available	Active
Canadian Institute for Health Information (CIHI) Drugs for Rare Diseases	"CIHI's initiatives under the National Strategy for Rare Diseases focus on: Improving the collection of real-world data on drugs for rare diseases Using our pan-Canadian data to conduct focused analyses of rare diseases Exploring linkages to data in rare disease registries to enhance our analyses"	www.cihi.ca www.cihi.ca	Not available	Data quality/management Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific	2024	Registry developers/holders	Canada	Not available	Active
RARE-X Data Analytics Platform	"RARE-X partners with patient advocacy and research partners globally to collect valuable patient data and make it available to researchers on a de-identified, patient-level basis, structured to support quantitative research. The RARE-X Data Analytics Platform is a global, secure, cloud-based platform where this data is shared to enable researchers to collaborate and access data previously unavailable to them."	rare-x.org rare-x.org	Not available	Registry platform Interoperability beyond core data elements	74	73	Yes	No	Patient/caregiver-reported surveys Genomic data	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2020	Registry developers/holders	United States	Not available	Active
REQueST Tool	"The tool has been developed to be a comprehensive resource that covers all important aspects relating to the quality of registries. The standards set out in the tool are universal and essential elements of good practice and evidence quality that are, therefore, relevant for different types of registries."	doi.org	REQueST Tool.pdf	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2019	Registry developers/holders	Europe	Not available	Time-limited
Core Outcome Measures in Effectiveness Trials (COMET)	"The COMET Initiative brings together people interested in the development and application of agreed standardised sets of outcomes, known as 'core outcome sets' (COS). These sets represent the minimum that should be measured and reported in all clinical trials of a specific condition, but COS are also suitable for use in routine care, clinical audit and research other than randomised trials."	www.comet-initiative.org	Not available	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Other	Yes	Yes	Data Best Practices and Standards	Generic	2010	Registry developers/holders	Europe	Not available	Active
Consensus-Based Standards for the Selection of Health Measurement Instruments (COSMIN)	"COSMIN aims to improve the selection of outcome measurement instruments both in research and in clinical practice by developing methodology and practical tools for selecting the most suitable outcome measurement instrument."	www.cosmin.nl www.cosmin.nl	Not available	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Other	Yes	Yes	Data Best Practices and Standards	Generic	2018	Registry developers/holders	Europe	Not available	Active
Genetic Alliance Registry Bootcamp	"A straightforward, online guide for establishing and managing research registries. The resources GA provides through RegistryBootcamp.org are wide-ranging, and will support communities throughout the process of designing and developing their own registries Our Registry system is a unique, award-winning research solution that empowers communities and organizations to build registries and design studies quickly and efficiently"	geneticalliance.org geneticalliance.org registrybootcamp.org doi.org	Not available	Registry guidance Registry platform	NA	NA	Not available	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered Genomic data	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2021	Registry developers/holders	United States	Not available	Active
International Consortium of Health Outcomes Measurement	"Defining global Sets of Patient-Centered Outcome Measures that matter most to patients and driving adoption and reporting of these measures worldwide to create better value for all stakeholders"	www.ichom.org	Not available	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Other	Yes	Yes	Data Best Practices and Standards	Generic	2012	Registry developers/holders	United States	Not available	Active
The Light Collective	"Developed a strategic roadmap for patient communities to organize around collective digital rights."	lightcollective.org	The Light Collective.pdf	Data quality/management	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Governance Best Practices and Standards Information Technology Infrastructure Best Practices and Standards	Generic	2018	Registry developers/holders Registry users	United States	Not available	Active
EURORDIS Rare Diseases Europe	"1. Delivering Electronic Health Records at the European level 2. Establishing harmonised approaches for rare disease patient data secondary uses 3. Creating trustworthy and safe telemedicine services for rare disease patients 4. Developing digital skills in the rare disease community "	www.eurordis.org openacademy.eurordis.org openacademy.eurordis.org www.eurordis.org	Not available	Registry guidance Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific	1997	Registry developers/holders	Europe	Not available	Active
Agency for Healthcare Research and Quality (AHRQ)	"AHRQ's Common Formats are a set of standardized definitions and formats that make it possible to collect, aggregate, and analyze uniformly structured information about patient safety for local, regional, and national learning (hospitals, community pharmacies, nursing homes). AHRQ produced a handbook that would serve as a reference for establishing, maintaining, and evaluating the success of registries created to collect data about patient outcomes. AHRQ developed a Registry of Patient Registries (RoPR) database system to meet the following objectives: (1) provides a searchable database of existing patient registries in the United States (2) facilitates the use of common data fields and definitions in similar health conditions to improve opportunities for sharing, comparing, and linkage (3) provides a public repository of searchable summary results, including results from registries that have not yet been published in the peer-reviewed literature (4) offers a search tool to locate existing data that researchers can request for use in new studies and (5) serves as a recruitment tool for researchers and patients interested in participating in patient registries."	effectivehealthcare.ahrq.gov effectivehealthcare.ahrq.gov	Not available	Registry guidance Common data elements Interoperability beyond core data elements Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Not available	United States	No	Not available	Not available	All rare diseases	Not available	No	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2015/2020/2011	Registry developers/holders Registry users	United States	Not available	Time-limited
The National Patient-Centered Clinical Research Network (PCORnet) Common Data Model	"The strength of the PCORnet infrastructure is that it enables researchers to quickly capture data insights from a large network of clinical information systems at once, which has historically been challenging. That's because each of these systems code and define data slightly differently from one another. A clinic might code birthdate as "Date_of_Birth," a health system might call it "Birth_DT," and a health registry might use the code "DOB." The PCORnet® Common Data Model, developed by the PCORnet® Network Partners, solves this challenge by standardizing millions of data points from the Network's diverse clinical information systems into a common format."	pcornet.org pcornet.org	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Generic	2023	Registry developers/holders	United States	Not available	Active
Patient Registry Item Specifications and metadata for Rare Diseases (PRISM)	"A library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries, including Internet-based registries."	doi.org doi.org	Not available	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	All rare diseases	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2010	Registry developers/holders	United States	Not available	Retired
PAtient REgistries iNiTiative (PARENT)	"The overall objective is to support member states in developing comparable and coherent patient registries in fields of identified importance (e.g. chronic diseases, rare diseases, medical technology) with the aim to rationalize and harmonize the development and governance of patient registries, thus enabling analyses of secondary data for public health and research purposes."	health.ec.europa.eu doi.org health.ec.europa.eu	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2008	Registry developers/holders	Europe	Not available	Time-limited
Chan Zuckerberg Initiative Rare as One Project	"With this Request for Information (RFI), we aim to learn more about a particularly vast and complex challenge that many patient communities experience when leading or co-designing efforts to collect and share data: the lack of interoperability."	chanzuckerberg.com chanzuckerberg.com	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2021	Registry developers/holders	United States	Not available	Retired
Clinical Trials Transformation Initiative	"Developed recommendations for registry trials to assess, develop, and evaluate registries for the support of clinical research and help meet expectations for FDA review of new products."	ctti-clinicaltrials.org ctti-clinicaltrials.org doi.org	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2021	Registry users	United States	Not available	Active
IndoUSOrganization for Rare Diseases	"Patient registry resources (PHUSE Working Group Transparency, Myths VS Facts About Patient Registries, PHUSE Working Group Registry Guide)"	www.indousrare.org	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Yes	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Registry specific	2019	Registry developers/holders	United States	Not available	Active
Beacon for Rare Diseases – The Resources Hub	"This course will explain what a patient registry is, how they can be used and why they are valuable to patient groups. Learn: How to use a patient registry and apply the data contained within it The steps involved in setting up a patient registry The important considerations for maintaining a registry The impact a registry can have"	resourceshub.rarebeacon.org	Not available	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Governance Best Practices and Standards Data Best Practices and Standards	Rare disease specific Registry specific	2022	Registry developers/holders Registry users	Europe	Not available	Active
Open Source Registry System for Rare Diseases (OSSE)	"OSSE provides patient organizations, physicians, scientists and other parties with open-source software for the creation of patient registries. As a result, the national registry landscape is empowered to comply with European principles regarding the establishment of minimum data sets, the compliance to data quality standards, etc. (summarized in the EUCERD Recommendation on RD registries). In addition, the necessary interoperability between different registries is supported from the start and allows to federate those registries on a national and international level (e.g. distributed searches designed to comply with data protection requirements and preserve data sovereignty)."	en.osse-register.de doi.org doi.org	Not available	Registry platform	NA	NA	Not available	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	NA	Registry developers/holders	Europe	Not available	Active
Research Electronic Data Capture (REDCap)	"REDCap is a secure web application for building and managing online surveys and databases. While REDCap can be used to collect virtually any type of data in any environment (including compliance with 21 CFR Part 11, FISMA, HIPAA, and GDPR), it is specifically geared to support online and offline data capture for research studies and operations. "	projectredcap.org	Not available	Registry platform	NA	NA	Yes	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered Genomic data Imaging data	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Generic	2006	Registry developers/holders	United States	Not available	Active
Longitudinal Online Research and Imaging System (LORIS)	"Longitudinal Online Research and Imaging System is a web-based data and project management software for neuroimaging research studies. It is an OPEN SOURCE framework for storing and processing behavioural, clinical, neuroimaging and genetic data. LORIS also makes it easy to manage large datasets acquired over time in a longitudinal study, or at different locations in a large multi-site study.	loris.ca	Not available	Registry platform	NA	NA	Not available	Yes	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered Genomic data Imaging data	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Generic	2006	Registry developers/holders	Canada	Not available	Active
Clinical Outcome Assessment (COA) Compendium	"The COA Compendium is part of FDA's efforts to foster patient-focused drug development. The COA Compendium is intended to facilitate communication and to provide clarity and transparency to drug developers and researchers by collating and summarizing clinical outcome assessment (COA) information for many different diseases and conditions into a single resource."	www.fda.gov	Not available	Common data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	All rare diseases	Not available	Yes	Data Best Practices and Standards	Generic	2016	Registry developers/holders	United States	Not available	Active
Global Alliance for Genomics and Health (GA4GH)	"The Global Alliance for Genomics and Health (GA4GH) unites an international community dedicated to advancing human health through genomic data. We build technical standards and policy frameworks and tools that will expand responsible, voluntary, and secure use of genomic and other related health data. The Technical Alignment Subcommittee (TASC) supports harmonisation, interoperability, and technical alignment across GA4GH products."	www.ga4gh.org	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Generic	2013	Registry developers/holders	International	Not available	Active
Quebec Coalition of Orphan Diseases (RQMO)	"Created a directory of rare disease registries to which patients/caregivers can self-register."	rqmo.org	Quebec Coalition of Orphan Diseases (RQMO).pdf	Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	International	Yes	No	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2025	Registry developers/holders Registry users	Canada	Not available	Active
MICYRN-CHEER Pediatric Research Ethics Consulting Service	"The Maternal Infant Child and Youth Research Network (MICYRN) and the Canadian Collaboration for Child Health: Efficiency and Excellence in the Ethics Review of Research (CHEER) Project are launching a Pediatric Research Ethics Consulting Service for multi-site, cross-provincial paediatric studies. This service aims to facilitate REB review processes for paediatric multi-site, cross-provincial studies."	neuromuscularnetwork.ca	MICYRN-CHEER Pediatric Research Ethics Consulting Service.pdf	Registry guidance	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Governance Best Practices and Standards	Generic	2024	Registry developers/holders	Canada	Not available	Active
RareLink	"An open-source framework implementing a ontology-based rare disease common data model, enabling standardised data exchange between REDCap, international registries, and downstream analysis tools."	doi.org github.com rarelink.readthedocs.io	Not available	Interoperability beyond core data elements	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Data Best Practices and Standards	Rare disease specific Registry specific	2024	Registry developers/holders	Europe	Not available	Active
Labcorp Invitae Patient Insights Network	"An online platform established for more than 400 medical conditions where participants can take surveys, upload medical records, track health outcomes, and learn about the latest research and clinical trials."	www.invitae.com cancerletter.com	Not available	Registry platform	NA	NA	Not available	No	Patient/caregiver-reported surveys Electronic medical record or lab data automatically entered	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Registry specific	2017	Registry developers/holders	United States	Not available	Active
IQVIA Clinical Insight Registry Platform	"An electronic data collection tool that allows for the collection of disease-specific, research ready, real-world data, through any device. Implementations can accommodate patient reported data, clinically reported data, or a combination of both sources and can be quickly deployed across different languages and geographies. Professional Medical/specialty Associations and Patient Organizations can benefit with a Collect custom electronic case report forms (eCRFs), Standardized terms in eCRFs for coding and classifying data, Implement compliant consent models and adhere to your registry/study protocols avoiding deviations and participant drop-out."	www.iqvia.com www.iqvia.com	Not available	Registry platform	120+	NA	Yes	No	Patient/caregiver-reported surveys Clinical/laboratory data entered by providers Electronic medical record or lab data automatically entered	Yes	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Registry specific	2018	Registry developers/holders	United States	Not available	Active
RareKids-CAN Inventory of Rare Disease Patient Registries	"The aim of this project is to list rare disease registries, including pediatric rare diseases that are non-oncology and listed in Orphanet. The registries must be available in Canada. The information collected in this project was mostly based on the list of metadata publicly released by HMA-EMA in February 2024. It was supplemented when needed with the Canadian Drug Agency list of metadata provided privately."	Not available	Not available	Registry inventory	Not available	Not available	Not available	Not available	Not available	Not available	Yes	International	Yes	No	Not available	Not available	Not available	Not available	Not applicable	Rare disease specific Registry specific	2024	Registry developers/holders Registry users	Canada	Not available	Active
Clinisys Cloud-based Disease Registry	"Clinisys can develop cloud-based electronic disease registries, clinical and genetic registries, and treatment registries that can be accessed via any internet browser regardless of where the user is located. Data is migrated from existing organizational data repositories and standardized to allow universal access."	clinisys.ca	Not available	Registry platform	NA	NA	Yes	Yes	Electronic medical record or lab data automatically entered	No	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not available	Not applicable	Registry specific	2011	Registry developers/holders	Canada	Not available	Active

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