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National Center for Research Resources (NCRR)

Monday, November 3, 2003

Joyce McDonald, NCRR

Kelli Marciel, OD/ORD

NIH Establishes Rare Diseases Clinical Research Network

To address the challenges inherent in diagnosing and treating rare diseases, the National Institutes of Health (NIH) announced today the establishment of the Rare Diseases Clinical Research Network. With $51 million in grant funding over five years from several NIH components,* the network will consist of seven Rare Diseases Clinical Research Centers (RDCRCs) and a Data and Technology Coordinating Center (DTCC).

"Funding research on rare diseases is a vital aspect of the NIH mission," said NIH Director, Elias A. Zerhouni, M.D. "By encouraging cooperative partnerships among the investigators at these centers, we hope to accelerate the development of diagnostics and treatments that will benefit these important patients."

The RDCRCs and the DTCC will be located at the following institutions:

  • Baylor College of Medicine, Houston, TX — Rare Disease Clinical Research Center for New Therapies and New Diagnostics — Dr. Arthur L. Beaudet

  • Boston University School of Medicine, Boston, MA — Vasculitis Clinical Research Network — Dr. Peter A. Merkel

  • Children's Hospital Medical Center, Cincinnati, OH — Rare Lung Diseases Clinical Research Network — Dr. Bruce C. Trapnell

  • Children's National Medical Center, Washington, DC — Rare Diseases Clinical Research Center for Urea Cycle Disorders — Dr. Mark L. Batshaw

  • The Cleveland Clinic Foundation, Cleveland, OH — Bone Marrow Failure Clinical Research Center — Dr. Jaroslaw P. Maciejewski

  • University of Rochester, Rochester, NY — Nervous System Channelopathies Pathogenesis and Treatment — Dr. Robert C. Griggs

  • Weill Medical College of Cornell University, New York, NY — The Natural History of Rare Genetic Steroid Disorders — Dr. Maria I. New

  • H. Lee Moffitt Cancer Center and Research Institute, University of South Florida, Tampa, FL — The Data and Technology Coordinating Center — Dr. Jeffrey P. Krischer

Approximately 25 million people in the United States are affected by an estimated 6,000 rare diseases or conditions. Diseases to be studied in the centers include: urea cycle disorders; Angelman's syndrome; Prader-Willi syndrome; Rett syndrome; periodic paralysis; non-dystrophic myotonic disorders; episodic ataxia; aplastic anemia; paroxysmal nocturnal hemoglobinuria; single lineage cytopenias, including granular lymphocyte leukemia, pure red cell aplasia, and myelodysplastic syndromes; vasculitis disorders; inborn defects in steroid hormone pathways; alpha-1 antitrypsin deficiency; lymphangioleiomyomatosis; pulmonary alveolar proteinosis; and hereditary idiopathic pulmonary fibrosis.

"Because of the small number of affected patients in any one location, rare disease research requires the collaboration of scientists from multiple disciplines and the capacity to share access to geographically distributed national research resources and patient populations," said Judith L. Vaitukaitis, M.D., director of the National Center for Research Resources (NCRR), one of the NIH funding components. "With a collaborative approach, the network will focus on identifying biomarkers for disease risk, disease severity and activity, and clinical outcome, while encouraging development of new approaches to the diagnosis, prevention, and treatment of rare diseases."

"The network will facilitate increased collaboration and data sharing between investigators and patient support groups working to improve the lives of those affected by these diseases and potentially prevent or eliminate these diseases in the future," said Stephen Groft, Pharm.D., director of NIH's Office of Rare Diseases. "In addition, knowledge about rare diseases may offer leads for scientific advancement in other rare diseases and in more common diseases."

This network supports the re-engineering of the clinical research enterprise component presented recently in the "Roadmap for Medical Research" by Dr. Zerhouni. Each research center consists of a consortium of clinical investigators partnering with patient support groups and institutions within and outside of the United States that have agreed to work together studying a group of rare diseases. In addition to fostering collaborative research, the RDCRCs will train new investigators for the represented rare diseases and provide content for a public Web site on rare diseases research.

Integration of various kinds of data including genetic, microarray, clinical, laboratory, and imaging, is one of the goals of this informatics approach to clinical research. The RDCRCs and their sites will work with the DTCC in developing common data elements, data standards, and data structures. The DTCC will incorporate new approaches to data sharing and federated databases at distributed sites that are scaleable or have the potential for future expansion and adaptation. This approach will enable researchers to integrate data with other clinical networks, such as the National Electronic Clinical Trials and Research (NECTAR) network.

Each RDCRC will utilize the resources available at the General Clinical Research Centers — 82 facilities distributed across the United States that provide clinical investigators with specialized research environments and specially trained research personnel. Supported by NCRR, the facilities include nursing staff, research subject advocates, and various core technologies, including sophisticated laboratories, nutrition staff, and imaging facilities.

The creation of the network responds to the Rare Disease Act of 2002, which directed NIH to support "regional centers of excellence for clinical research into, training in, and demonstration of diagnostic, prevention, control, and treatment methods for rare diseases." The term "rare (or orphan) disease," as defined in the Orphan Drug Act, is a condition affecting fewer than 200,000 in the United States or a disease with a greater prevalence but for which no reasonable expectation exists that the costs of developing or distributing a drug can be recovered from the sale of the drug in the United States.

*The Rare Diseases Clinical Research Network is funded by the Office of Rare Diseases, National Center for Research Resources, National Institute of Child Health and Human Development, National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, and National Institute of Diabetes and Digestive and Kidney Diseases, all components of NIH, an agency of the Department of Health and Human Services.

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