software NIH/NCATS global rare diseases registry

A computer software program developed at Marshfield Clinic Research Foundation (MCRF) soon will support the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) Global Rare Diseases Patient Registry Data Repository (GRDR) program, designed to advance research for rare diseases. Developed as a collaborative effort of MCRF's Biomedical Informatics Research Center and its Clinical Research Center, the software is available free of charge to institutions and patient advocacy organizations developing rare disease registries to be included in the GRDR.

The main goal of the NIH/NCATS Global Rare Diseases Patient Registry Data Repository (GRDR) program is to create a central web-based global data repository that will aggregate coded patient information and clinical data to be available to investigators to conduct various biomedical studies, including clinical trials. This will be done by collecting and aggregating data from rare disease registries in a standardised manner and linking the registry data to Common Data Elements (CDEs) using nationally accepted standards and standard terminologies. The GRDR program will collaborate and link to other major national and international rare disease databases to maximize the efforts in rare disease research. Organizations that choose to use the registry software will be able to build and customize their registry and questionnaires using the dynamic form and other developed features in the framework. NIH/NCATS has conducted a 2-year proof of concept pilot project involving patient group registries testing the implementing of the GRDR Common Data Elements (CDEs) when establishing new patient registries, collect new data and map existing data using those CDEs, follow patients across registries, and gauge the interest in such a registry in the rare disease community. The pilot concluded in September 2013 and the rare disease community has accepted the importance of using CDEs and standard vocabularies & terminologies. NIH/NCATS is moving forward with the next steps to develop the NIH/NCATS GRDR Program.
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