NIH launches clinical studies nationwide to investigate rare diseases
The National Institutes of Health (NIH) is launching the first clinical studies of its Rare Diseases Clinical Research Network (RDCRN). More than 20 studies are expected to open in the next few months at about 50 sites across the United States – including Colorado – and in several other countries such as the United Kingdom, Japan, and Brazil.
Three University of Colorado School of Medicine/The Children’s Hospital doctors are among the principal investigators in the network, including Ronald Sokol, MD, Pediatric Gastroenterology, Hepatology and Nutrition, in the Cholestatic Liver Disease Consortium (CLiC); Robin Deterding, MD, Pediatric Pulmonology, in the Rare Lung Disease Consortium; and Scott Sagel, MD, Pediatric Pulmonology, in the Genetic Diseases of Mucociliary Clearance Consortium.
Initial RDCRN Studies Listed by City:
http://www.ncrr.nih.gov/clinical/rdcrn_studylist.asp
Officially, a rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. About 6,000 such disorders have been identified, impacting an estimated 25 million Americans. Few drug companies conduct research into rare diseases since there is little chance to recoup the costs of developing treatments for such small, geographically dispersed populations.
“ By studying the genetic component of these rare diseases, we hope to be able to better predict the course of the illnesses and provide more effective, personalized treatments for those afflicted,” said NIH Director Elias A. Zerhouni, MD. “Ultimately, this individualized approach, completely different from how we treat patients today, will allow us to prevent or to promptly treat the complications arising from these genetic disorders.”
The RDCRN has received five-year funding awards totaling $71 million and is coordinated primarily by two NIH components — the Office of Rare Diseases (ORD) and the National Center for Research Resources (NCRR). A central data and technology coordinating center and 10 research consortia will investigate a variety of diseases including Angelman, Rett, Prader-Willi syndromes; myelodysplastic syndrome and other bone marrow failure conditions; lymphangioleiomyomatosis (LAM), rare genetic disorders of the airways, and other rare lung diseases; episodic ataxia, Andersen-Tawil syndrome, and nondystrophic myotonias; several vasculitides; urea cycle disorders; antiphospholipid syndrome and other rare thrombotic diseases; rare pediatric liver diseases; and rare genetic steroid defects.
" Increased collaboration among researchers investigating rare diseases will not only lead to discoveries that will help prevent and treat these conditions, but may also produce medical advances that will benefit the population in general,” said Stephen Groft, PharmD, director of NIH's Office of Rare Diseases.
The initiative includes interventional trials to test new therapies or drugs, as well as longitudinal or natural history studies that will provide information about the characteristics of rare diseases and their progression over time. Data collection standards have been established for the research projects and the data produced will be made publicly available with appropriate safeguards for patient confidentiality.
Each consortium in the network includes active participation by the relevant patient advocacy groups. In addition, the Coalition of Patient Advocacy Groups (CPAG) was created to represent the more than 30 patient advocacy groups involved in the network. CPAG has been instrumental in outreach to the affected populations and gaining their input into the development of studies.
The RDCRN is funded by the ORD; NCRR; National Heart, Lung and Blood Institute; 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.
For more information about the network, visit www.rarediseasesnetwork.org. People interested in participating in the study can get more information at www.rarediseasesnetwork.org/clic.
