Rare Diseases Clinical Research Network

The Rare Diseases Clinical Research Network (RDCRN) is an initiative of the Office of Rare Diseases Research (ORDR). RDCRN is funded by the ORDR, the National Center for Advancing Translational Sciences and collaborating institute centers. The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.

As of October 2014, the network is composed of around 2,600 researchers which includes National Institutes of Health staff, academic investigators and members of 98 patient advocacy groups. There are 91 studies underway.

History

The following is a timeline of the Rare Diseases Clinical Research Network:

• As a result of the Rare Diseases Act of 2002, on February 27, 2003, the ORDR (in conjunction with the National Center for Research Resources (NCRR), the General Clinical Research Consortium (GCRC) Program, and other NIH Institutes) requested applications for a Rare Diseases Clinical Research Network.
• On November 3, 2003, the NIH established the Rare Diseases Clinical Research Network with a Data Technology Coordinating Center and the first Rare Disease Clinical Research Consortia (RDCRCs). The founding members of the RDCRN were:

• Rare Disease Clinical Research Center for New Therapies and New Diagnostics, Principal Investigator: Dr. Arthur L. Beaudet (Baylor College of Medicine, Houston, TX)
• Vasculitis Clinical Research Network, Principal Investigator: Dr. Peter A. Merkel (University Pennsylvania, Philadelphia, PA)
• Rare Lung Diseases Consortium, Principal Investigator: Dr. Bruce C. Trapnell (Children's Hospital Medical Center, Cincinnati, OH)
• Rare Diseases Clinical Research Center for Urea Cycle Disorders, Principal Investigator: Dr. Mark L. Batshaw (Children's National Medical Center, Washington, DC)
• Bone Marrow Failure Clinical Research Center, Principal Investigator: Dr. Jaroslaw P. Maciejewski (The Cleveland Clinic Foundation, Cleveland, OH)
• Nervous System Channelopathies Pathogenesis and Treatment, Principal Investigator: Dr. Robert C. Griggs (University of Rochester, Rochester, NY)
• The Natural History of Rare Genetic Steroid Disorders, Principal Investigator: Dr. Maria New (Weill Medical College of Cornell University, New York, NY)
• The Data and Technology Coordinating Center, Principal Investigator: Dr. Jeffrey P. Krischer (H. Lee Moffitt Cancer Center and Research Institute, University of South Florida, Tampa, FL)

• On February 8, 2009, the ORDR partnered with 10 other NIH Institutes to release two requests for resubmissions for the RDCRN.
• On October 5, 2009, the NIH announced funding for 19 rare disease clinical research consortia and a Data Management Coordinating Center through the ORDR, along with the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Heart, Lung, and Blood Institute (NHLBI), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Dental and Craniofacial Research (NIDCR), and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
• On October 8, 2014, the NIH announced additional funding of $29 million.

Rare Disease Clinical Research Consortia

The Rare Diseases Clinical Research Network consists of 22 Rare Diseases Clinical Research Centers (RDCRCs) and a Data Management and Coordinating Center (DMCC).

The RDCRCs, the DMCC, and their Principal Investigators are located at the following institutions:

• Urea Cycle Disorders Consortium (UCDC), Mark L. Batshaw, M.D., Children's National Medical Center, Washington, DC
• Rett Syndrome, MECP2 Duplications, and Rett-related Disorders Consortium (Rett), Alan K. Percy, M.D., Civitan International Research Center, University of Alabama at Birmingham
• Vasculitis Clinical Research Consortium (VCRC), Peter A. Merkel, M.D., M.P.H., University of Pennsylvania, Philadelphia, PA
• Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), Michael Knowles, M.D., CF/Pulmonary Research & Training Center, Chapel Hill, NC
• Rare Lung Disease Consortium (RLD), Bruce Trapnell, M.D., Cincinnati Children’s Hospital, Cincinnati, OH
• Autonomic Rare Diseases Clinical Research Consortium (ARD), David Herlie Robertson, M.D., Vanderbilt University Medical Center, Nashville, TN
• Brain Vascular Malformation Consortium (BVMC): Predictors of Clinical Course, Michael T. Lawton, M.D., University of California, San Francisco
• Dystonia Coalition (DC), Hyder A. Jinnah, M.D., Emory University, Atlanta, GA
• Rare Kidney Stone Consortium (RKSC), Dawn S. Milliner, M.D., Mayo Clinic College of Medicine, Rochester, MN
• Chronic Graft Versus Host Diseases Consortium (cGVHD), Stephanie J. Lee, M.D., M.P.H., Fred Hutchinson Cancer Research Center, Seattle, WA
• Inherited Neuropathies Consortium (INC), Michael E. Shy, M.D., University of Iowa, Iowa City, IA
• Lysosomal Disease Network (LDN), Chester B. Whitley, M.D., University of Minnesota Twin Cities, Minneapolis, MN
• Nephrotic Syndrome Study Network (Neptune), Matthias Kretzler, M.D., University of Michigan, Ann Arbor, MI
• Primary Immune Deficiency Treatment Consortium (PIDTC), Morton J. Cowan, M.D., University of California, San Francisco
• Sterol and Isoprenoid Diseases Consortium (STAIR), William Rizzo, M.D., University of Nebraska, Omaha, NE
• Porphyrias Consortium (PC), Robert J. Desnick, Ph.D., M.D., Mount Sinai School of Medicine of New York University, New York, NY
• North America Mitochondrial Diseases Consortium (NAMDC), Michio Hirano, M.D., Columbia University Medical Center, New York, NY
• Brittle Bone Disease Consortium (BBD), Brendan Lee, MD, PhD, Baylor College of Medicine, Houston, TX
• Consortium for Eosinophilic Gastrointestinal Disease Researchers (CEGIR), Marc E. Rothenberg, M.D., Ph.D., Cincinnati Children’s Hospital, Cincinnati, OH
• Development Synaptopathies Consortium (DSC), Mustafa Sahin, M.D., Ph.D., Boston Children’s Hospital, Boston, MA
• Clinical Research in ALS and Related Disorders for Therapeutic Development Consortium (CREATE), Michael Benatar, M.D., Ph.D., University of Miami, Miami, FL
• UCSF Memory and Aging Center Consortium (UMAC), Adam Boxer, M.D., Ph.D., University of California, San Francisco, San Francisco, CA
• The Data Management and Coordinating Center (DMCC), Jeffrey P. Krischer, Ph.D., University of South Florida, Tampa, FL

Data Management and Coordinating Center (DMCC)

The RDCRN’s Data Management and Coordinating Center (DMCC) is hosted by the Health Informatics Institute at the University of South Florida in Tampa, FL. The DMCC supports RDCRN consortia by providing "data management and analysis infrastructure; logistical and administrative assistance; and data coordination, management, and sharing."

The RDCRN also provides user-friendly web-based recruitment and referral tools, including the RDCRN Contact Registry. The RDCRN Contact Registry aims to provide up-to-date information for patients and assist in connecting patients with advocacy groups, expert doctors, and clinical research opportunities.

External links

• Rare Diseases Clinical Research Network (RDCRN)
• NIH Office of Rare Diseases Research (ORDR): RDCRN information