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. 2014 Aug;29 Suppl 3(Suppl 3):S739-44.
doi: 10.1007/s11606-014-2894-x.

The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research

Jeffrey P Krischer  1 , Rashmi Gopal-Srivastava, Stephen C Groft, David J Eckstein; Rare Diseases Clinical Research Network
Affiliations

The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research

Jeffrey P Krischer et al. J Gen Intern Med. 2014 Aug.

Abstract

Established in 2003 by the Office of Rare Diseases Research (ORDR), in collaboration with several National Institutes of Health (NIH) Institutes/Centers, the Rare Diseases Clinical Research Network (RDCRN) consists of multiple clinical consortia conducting research in more than 200 rare diseases. The RDCRN supports longitudinal or natural history, pilot, Phase I, II, and III, case-control, cross-sectional, chart review, physician survey, bio-repository, and RDCRN Contact Registry (CR) studies. To date, there have been 24,684 participants enrolled on 120 studies from 446 sites worldwide. An additional 11,533 individuals participate in the CR. Through a central data management and coordinating center (DMCC), the RDCRN's platform for the conduct of observational research encompasses electronic case report forms, federated databases, and an online CR for epidemiological and survey research. An ORDR-governed data repository (through dbGaP, a database for genotype and phenotype information from the National Library of Medicine) has been created. DMCC coordinates with ORDR to register and upload study data to dbGaP for data sharing with the scientific community. The platform provided by the RDCRN DMCC has supported 128 studies, six of which were successfully conducted through the online CR, with 2,352 individuals accrued and a median enrollment time of just 2 months. The RDCRN has built a powerful suite of web-based tools that provide for integration of federated and online database support that can accommodate a large number of rare diseases on a global scale. RDCRN studies have made important advances in the diagnosis and treatment of rare diseases.

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Figures

Figure 1.
Figure 1.
The Consortia of the Rare Diseases Clinical Research Network. *National Institutes of Health (NIH), Office of Rare Diseases Research/National Center for Advancing Translational Sciences (ORDR/NCATS), National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Dental and Craniofacial Research (NIDCR), National Cancer Institute (NCI), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Child Health and Human Development (NICHD), National Heart, Lung and Blood Institute (NHLBI), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Observational Study Monitoring Board/Data and Safety Monitoring Board (OSMB/DSMB).
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