OverviewThe NIH/NCATS Global Rare Diseases Patient Registry Data Repository/GRDRSM program is designed to advance research for rare diseases, and through application of scientific insights gained, to further research for common diseases as well. The ultimate goal is to improve therapeutic development and quality of life for the many millions of people suffering with a rare disease.
Data Collection and Submission
Data will be collected by registry owners, which in most cases are rare disease advocacy groups or academic-based scientific teams. Registry data shared for GRDRSM will be standardized to common formats and terms so that the registries are 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.
To protect patient privacy, only coded data will be collected and aggregated, and a Global Unique Identifier (GUID) will be assigned to each patient’s data. The GUID approach enables researchers to follow patients over time and across diseases, registries, studies and countries. This approach also allows for linking patients’ clinical information to a corresponding biospecimens data set. Patient recruitment for subsequent studies, based on registry data, will be facilitated only through the contributing registry.
GRDRSM began as a pilot 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.” The pilot project, which concluded in September 2013, included 12 patient advocacy group registries. The project involved validating and implementing Common Data Elements (CDEs) and gauging general interest from the rare diseases community.
Based on the lessons learned from the pilot, NCATS ORDR staff are moving forward with next steps to further develop the GRDRSM program. They are working with the rare diseases research community, other NIH Institutes and Centers, the Patient Centered Outcomes Research Institute, 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 the GRDRSM data model, an institutional review board, CDEs, data policies, informed consent templates and patient registry template software.
For More Information
- The case for a global rare-diseases registry
- Patient registry for the overlooked patient
- Letter to the editor of Contemporary Clinical Trials
- Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)
- Informed consent process for patient participation in rare disease registries linked to biorepositories
- Informed consent template for patient participation in rare disease registries linked to biorepositories (journal article)
- Rare Diseases Human Biospecimens/Biorepositories (RD-HUB)