The Office of Rare Diseases Research (ORDR) has launched a pilot program to establish a Global Rare Diseases Patient Registry and Data Repository (GRDR) to collect patient clinical information without personal identifiers (de-identified information compiled by the federal common rule and HIPAA and FISMA regulations) for research.Through the development of this registry database, ORDR will lead the community in establishing a shared resource of patient natural history information to accelerate research within a disease and across diseases.

The GRDR will serve rare disease patients and advocacy groups seeking help and information. It will also serve researchers developing new knowledge, clinicians treating patients, epidemiologists analyzing disease data, and investigators seeking patients for new clinical trials and initiating natural history studies. GRDR seeks to create a private-public partnerships with different sectors of the community including advocacy, research and industry.

The goal of GRDR is to enable analyses of data across many rare diseases and to facilitate clinical trials and other studies. During the two-year pilot program, a web-based template will be developed to allow any patient organization to establish a rare disease patient registry. At the conclusion of the program, guidance will be available to patient groups to establish a registry and to contribute de-identified patient data to the GRDR repository.

A Request for Information (RFI) was released on February 10, 2012 requesting information from patient groups about their interest in participating in a GRDR pilot project. ORDR selected 30 patient organizations to participate in this pilot program to test the different functionalities of the GRDR. Fifteen (15) organizations with established registries and 15 organizations that do not have patient registry.

The 15 patient groups, each without a registry, were selected to assist in testing the implementation of the ORDR Common Data Elements (CDEs) in the newly developed registry infrastructure. These organizations will participate in the development and promotion of a new patient registry for their rare disease. The GRDR program will fund the development and hosting of the registry during the pilot program. Thereafter, the patient registry is expected to be self-sustaining.The 15 established patient registries were selected to integrate their de-identified data into the GRDR to evaluate the data mapping and data import/export processes. The GRDR team will assist these organizations in mapping their existing registry data to the CDEs. Participating registries must have a means to export their de-identified registry data into a specified data format that will facilitate loading the data into the GRDR repository on a regular basis.

The GRDR will also develop the capability to link patients’ data and medical information to donated biospecimens by using a Voluntary Global Unique Patient Identifier (GUID). The identifier will enable the creation of an interface between the patient registries that are linked to biorepositories and the Rare Disease Human Biospecimens/Biorepositories (RD-HUB) http://biospecimens.ordr.info.nih.gov/.