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The Office of Rare Diseases Research has launched a pilot project to establish the Global Rare Diseases Patient Registry and Data Repository (GRDR). The goal is to establish a data repository of de-identified patient data, aggregated in a standardized manner, using Common Data Elements (CDEs) and standardized terminology. This data will be available to all investigators to enable analyses across many rare diseases and to facilitate various biomedical studies, including clinical trials, in pursuit of developing drugs and therapeutics to improve the healthcare and the quality of life for the many millions of people who are diagnosed with rare diseases. De-identification of patient’s data will utilize the Global Unique Identifiers (GUID) system which could also link patient’s data to biospecimen data set.
To assist in testing the different aspects of creating the GRDR repository, including implementation of the CDEs and the mapping to standard terminology, patients groups with and without registries were selected to participate in the pilot project.
In an attempt to harmonize and provide standardization among the different rare disease registries, ORDR has developed a number of resources, available to all. Among them are a set of CDEs that can serve groups establishing their patient registries and existing registries transferring their data to the GRDR repository and an informed-consent-document for participating in a patient registry.
In addition, during the two-year pilot project, ORDR has developed a web-based Open-source Patient Registry template that will be released to the public, as a service to the patient organizations and others, to allow and encourage them to establish additional rare disease patient registries.
During the pilot project period, guidance and instructions will be available to selected patient groups to establish a registry and to contribute their de-identified patient data to the GRDR repository, and to selected groups with existing registries to map their de-identified data and export it to the GRDR repository.
The GRDR website provides information and useful links to other resources related to patient registries and the rare disease community.