The NIH/NCATS Global Rare Diseases Patient Registry Data Repository/GRDR® program goal is to build a Web-based resource that integrates, secures and stores de-identified patient information from many different registries for rare diseases, all in one place.
A registry is a place to collect and store large amounts of data on a specific topic. A rare disease patient registry might include information about a patient’s disease diagnosis, age, gender and medications. Often, foundations and other groups that advocate for patients create registries to help researchers and health care professionals study a particular disease.
Data Collection & Submission
Registry owners — usually rare disease advocacy groups or academic-based researchers — will collect and store their own data. GRDR program staff have developed common data elements (CDEs) that will enable registry owners to collect data using common formats and terms.
To submit those data for inclusion, registry owners should use a global unique identifier (GUID) for each participant. The GUID is an identifying code that is designed to track patients’ data in a de-identified manner to protect the confidentiality of research subjects.
Standardizing data and using GUIDs enable registries to be interoperable with one another and with other national databases. The data will be made broadly available to scientists, who can use the information to conduct analyses across many diseases and spur new research collaborations, studies and clinical trials, as well as find patients to recruit to scientific studies.
The GRDR program began as a proof-of-concept project following a 2010 workshop sponsored by the NIH Office of Rare Diseases Research (ORDR), “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data” (PDF - 55KB). This project, which concluded in September 2013, included 12 patient advocacy group registries. It involved validating and implementing CDEs and gauging general interest from the rare diseases community.
Based on lessons learned from the proof-of-concept project and an exercise to test the mapping of data from selected rare disease registries, NCATS staff are moving forward with next steps to further develop the GRDR program. They are working with the rare diseases research community, other NIH Institutes and Centers, the Patient Centered Outcomes Research Institute, the International Rare Diseases Research Consortium, health care providers, patients and patient advocacy groups, the pharmaceutical and biotech industries, and other researchers to develop a range of tools and resources. Such resources could include developing a GRDR program data model, an institutional review board, additional CDEs, data policies, informed consent templates and patient registry template software.