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 of 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 Angelman, Rett, and Prader-Willi Syndromes Consortium, the Urea Cycle Disorders Consortium, and the Sterol & Isoprenoid Research (STAIR) Consortium.
The Angelman, Rett, and Prader-Willi Syndrome Consortium studies various aspects of the neurodevelopmental diseases: Angelman syndrome, Rett syndrome, and Prader-Willi syndrome (PWS). In addition to some cognitive and developmental problems common to all three diseases, each syndrome has its own unique symptoms and causes its own unique 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 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.
The Angelman, Rett, and Prader-Willi Syndromes Consortium has a primary interest in developing new diagnostics and therapies for these genetic disorders. Consortium activities also include (but are not limited to):
- Establishing natural history protocols for the three disorders
- Developing new therapeutics for Angelman syndrome
- Using microarray comparative genomic hybridization to search for deletions in patients with PWS-like features, or in those with early morbid obesity
- Developing new methodologies for detecting large chromosomal deletions in individuals with Rett syndrome
- Providing prenatal diagnosis of deletion cases of PWS and Angelman syndrome using chromosome microarray analysis
- Distinguishing between different-sized deletions for PWS and Angelman syndrome with two unique research microarrays
- Baylor College of Medicine (Focus: Angelman, Rett)
- Children’s Hospital Boston (Focus: Angelman, Rett)
- Rady Children’s Hospital–San Diego (Focus: Angelman)
- Greenwood Genetic Center (South Carolina) (Focus: Angelman, Rett)
- University of Alabama at Birmingham (Focus: Rett)
- University of California, Irvine, Medical Center (Focus: PWS)
- University of Florida Health Science Center (Focus: PWS)
- University of Kansas Medical Center (Focus: PWS)
- Monroe Carrell Jr. Children’s Hospital at Vanderbilt (Focus: Angelman, PWS)
The University of South Florida College of Medicine serves as the DMCC for the NIH Rare Diseases Clinical Research Network.