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 Sterol and Isoprenoid Research (STAIR) Consortium, the Urea Cycle Disorders Consortium, and the Angelman, Rett, and Prader-Willi Syndrome Consortium.
The STAIR Consortium studies disorders related to cholesterol and other sterol and isoprenoid metabolism. These diseases share common biochemistry, impact on health, and rarity. Diseases studied by the Consortium include Smith-Lemli-Opitz syndrome (SLOS) , Niemann-Pick disease type C (NPC) , Sjögren-Larsson syndrome (SLS) , mevalonate kinase deficiency (MKD) , sitosterolemia , and cerebrotendinous xanthomatosis .
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 also maintains a common patient registry, which, as of 2009, provides ongoing contact with approximately 5,000 individuals from more than 60 countries representing 42 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.
STAIR Consortium activities and goals include (but are not limited to):
- Performing or recruiting participants for clinical studies of diseases caused by impaired sterol or isoprenoid metabolism
- Supporting a full-scale training program in sterol or isoprenoid metabolism research
- Engaging patient advocacy groups in taking part in STAIR activities and clinical trials
- Supporting projects to explore promising leads in the understanding, diagnostics, and treatment of sterol and isoprenoid diseases
- Collaborating with investigators worldwide who may use STAIR resources
- Children’s Hospital of Pittsburgh/University of Pittsburgh Medical Center (Focus: SLOS, SC4MOL deficiency)
- Cincinnati Children’s Hospital Medical Center (Focus: SLOS)
- Michigan Technological University (Focus: MKD)
- NIH Clinical Center/NICHD (Focus: SLOS)
- Oregon Health & Science University (Focus: SLOS, CTX)
- University of Manitoba, Winnipeg, Manitoba Canada (Focus: sitosterolemia)
- University of Nebraska Medical Center (Focus: SLOS, SLS)
- University Nimegen Medical Centre (Focus: MKD)
The University of South Florida College of Medicine serves as the DMCC for the NIH Rare Diseases Clinical Research Network.