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Current RDCRN Consortia

The Rare Diseases Clinical Research Network (RDCRN) is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

About the Current RDCRN Consortia

Currently, the RDCRN consists of 20 individual clinical research consortia and a Data Management and Coordinating Center (DMCC). Each consortium focuses on at least three related rare diseases or conditions, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis, and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions.

On Oct. 3, 2019, NIH announced awards to both existing and new RDCRN consortia. 

Brain Vascular Malformation Consortium (BVMC)

Helen Kim, M.P.H., Ph.D.

University of California, San Francisco

Learn more about this project in NIH RePORTER.

Brittle Bone Disorders Consortium (BBDC)

Brendan Lee, M.D., Ph.D.

Baylor College of Medicine, Houston

Learn more about this project in NIH RePORTER.

Clinical Research in Amyotrophic Lateral Sclerosis and Related Disorders for Therapeutic Development (CReATe)

Michael Benatar, MD., Ph.D.

University of Miami Miller School of Medicine, Florida

Learn more about this project in NIH RePORTER.

Congenital and Perinatal Infections Consortium (CPIC)

David Kimberlin, M.D.

University of Alabama at Birmingham

Learn more about this project in NIH RePORTER.

Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)

Marc E. Rothenberg, M.D., Ph.D.

Cincinnati Children’s Hospital Medical Center

Learn more about this project in NIH RePORTER.

Developmental Synaptopathies Consortium (DSC)

Mustafa Sahin, M.D., Ph.D.

Boston Children’s Hospital

Learn more about this project in NIH RePORTER.

Dystonia Coalition

Hyder A. Jinnah, M.D., Ph.D.

Emory University, Atlanta

Learn more about this project in NIH RePORTER.

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Eva Morava-Kozicz, M.D., Ph.D.

Mayo Clinic, Rochester

Learn more about this project in NIH RePORTER.

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

Stephanie Davis, M.D. – The University of North Carolina at Chapel Hill

Thomas Ferkol, M.D. – Washington University in St. Louis

Learn more about this project in NIH RePORTER.

Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

Adeline L. Vanderver, M.D. – Children's Hospital of Philadelphia

S. Ali Fatemi, M.D., M.B.A. – Kennedy Krieger Institute

Florian S. Eichler, M.D. – Massachusetts General Hospital

Learn more about this project in NIH RePORTER.

Inherited Neuropathy Consortium (INC)

Michael E. Shy, M.D.

University of Iowa, Iowa City

Learn more about this project in NIH RePORTER.

Lysosomal Disease Network (LDN)

Chester B. Whitley, M.D., Ph.D.

University of Minnesota, Minneapolis

Learn more about this project in NIH RePORTER.

Myasthenia Gravis Rare Disease Network (MGNet)

Henry J. Kaminski, M.D.

The George Washington University, Washington, D.C.

Learn more about this project in NIH RePORTER.

Nephrotic Syndrome Study Network (NEPTUNE)

Matthias Kretzler, M.D.

University of Michigan, Ann Arbor

Learn more about this project in NIH RePORTER.

North American Mitochondrial Disease Consortium (NAMDC)

Michio Hirano, M.D.

Columbia University, New York

Learn more about this project in NIH RePORTER.

Phenylalanine Families and Researchers Exploring Evidence (PHE FREE)

Cary Harding, M.D.

Oregon Health & Science University, Portland

Learn more about this project in NIH RePORTER.

Porphyrias Consortium (PC)

Robert J. Desnick, Ph.D., M.D.

Icahn School of Medicine at Mount Sinai, New York

Learn more about this project in NIH RePORTER.

Primary Immune Deficiency Treatment Consortium (PIDTC)

Jennifer M. Puck, M.D. – University of California, San Francisco

Donald B. Kohn, M.D. – University of California, Los Angeles

Learn more about this project in NIH RePORTER.

Urea Cycle Disorders Consortium (UCDC)

Andrea L. Gropman, M.D., FAAP, FACMG

Children's National Medical Center, Washington D.C

Learn more about this project in NIH RePORTER.

Vasculitis Clinical Research Consortium (VCRC)

Peter A. Merkel, M.D., M.P.H.

University of Pennsylvania, Philadelphia

Learn more about this project in NIH RePORTER.

RDCRN Data Management and Coordinating Center (DMCC)

Eileen King, Ph.D. and Maurizio Macaluso, M.D., DrPH, FACE

Cincinnati Children’s Hospital Medical Center

Learn more about this project in NIH RePORTER.

Last updated on March 8, 2024