The NIH Rare Diseases Clinical Research Network, established in response to the Rare Disease Act of 2002 (Public Law 107-280), includes 19 distinct RDCRCs that work together to improve availability of information, treatment, clinical studies, and general awareness on rare diseases for patients, families, and the medical/research community. The Network also provides shared access to geographically distributed research resources in order to study the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.
The NICHD, through its Intellectual and Developmental Disabilities Branch (IDDB), provides funding and scientific support to three consortia: the Urea Cycle Disorders Consortium, the Angelman, Rett, and Prader-Willi Syndromes Consortium, and the Sterol & Isoprenoid Research (STAIR) Consortium.
The Urea Cycle Disorders Consortium examines disorders that affect the body’s urea cycle, which regulates the metabolic process of converting wastes from the breakdown of food into urea that is excreted in urine. In urea cycle disorders, these wastes build up in the blood and cause neurological and other developmental problems.
All the RDCRCs, including those supported by the NICHD, rely on a Data Management and Coordinating Center (DMCC) for a shared data management system, uniform investigative clinical research protocols, and standard adverse event reporting protocols. The DMCC still maintains a common patient registry, which, as of 2012, provides ongoing contact with approximately 13,000 individuals from more than 60 countries, representing more than 50 diseases. The direct involvement of patient advocacy groups in operations, activities, and strategy is also a major feature of the Network program.
Each NICHD-supported consortium’s research activities reflect the scientific and clinical needs of its particular diseases of interest.
Urea Cycle Disorders Consortium research includes (but is not limited to):
- Performing longitudinal natural history studies of urea cycle disorders to understand morbidity, mortality, and treatment efficacy
- Surveying and promoting newborn screening for urea cycle disorders to aid in early identification and treatment
- Evaluating new approaches to therapy for these disorders
- Developing novel non-invasive methods for assessing changes in urea synthesis, both over time and under varying treatment conditions
- Performing neuropsychological and neuroimaging studies on individuals with these disorders to understand the effects of hyperammonemia on neurocognitive function
- Promoting the entrance of M.D. and Ph.D. investigators into the study of urea cycle disorders through a postdoctoral fellowship training program
- Centre for Pediatric and Adolescent Medicine (Heidelberg, Germany)
- The Children's Hospital (Aurora, CO)
- Children’s Hospital Boston
- Children’s Hospital of Philadelphia
- Children’s National Medical Center (Washington, DC)
- Georgetown University
- The Hospital for Sick Children (Toronto, Canada)
- Mount Sinai School of Medicine
- Oregon Health & Science University
- Rainbow Babies and Children’s Hospital (Cleveland, OH)
- Seattle Children’s Hospital, University of Washington School of Medicine
- Texas Children’s Hospital/Baylor College of Medicine
- University Children’s Hospital Zurich (Switzerland)
- University of California, Los Angeles
- University of Minnesota Amplatz Children’s Hospital
The University of South Florida College of Medicine serves as the DMCC for the NIH Rare Diseases Clinical Research Network. The Consortium collaborates with the National Urea Cycle Disorders Foundation and the DMCC to maintain the consortium Web site, which provides clinical and research information on urea cycle disorders to the public, health care providers, and patients and families.