The Muscular Dystrophy Community Assistance, Research, and Education Amendments (MD-CARE Act) of 2001 (Public Law 107-84) aimed to expand and intensify research on muscular dystrophies (MDs). The Act included language directing the NIH to establish centers of excellence for research on these diseases. The Muscular Dystrophy Cooperative Research Centers (MDCRC) program was later named in honor of Senator Paul D. Wellstone, a champion of MD research, as the Paul D. Wellstone MDCRCs.
The goal of the Wellstone MDCRCs is to foster the translation of new scientific findings and technological developments into novel treatments for the MDs. The MDCRCs promote basic, translational, and clinical research and provide important resources that can be used by the national muscle biology and neuromuscular research communities.
The six U.S. Centers are funded through the U54 mechanism by the NICHD's
Intellectual and Developmental Disabilities Branch (IDDB); the National Institute of Arthritis and Musculoskeletal and Skin Diseases; the National Heart, Lung, and Blood Institute; and the National Institute of Neurological Disorders and Stroke. The NICHD currently funds two Centers. In addition to funding the two MDCRCs through the U54 mechanism, the NICHD supports research and training on MD through several other mechanisms.
Each MDCRC serves as a focal point for research collaborations in the MD field and provides training and advice about MD for basic and clinical researchers. The Centers also engage MD patients and patient advocates in educational programs.
Centers include one or more scientific research resource cores that support the specific MDCRC projects and serve as a resource for the international MD research community. Current NICHD-funded cores that serve the research community include:
Cell Core. Among its activities, this core maintains a tissue bank of samples from facioscapulohumeral dystrophy (FSHD) patients. Through collaboration with partners, this core also stores and immortalizes cells, including myoblasts and lymphocytes, from FSHD patients.
Immunology Core. This core provides access to assays for measuring immune responses in patients with Duchenne MD (DMD) who are receiving gene therapy and other therapies to increase their dystrophin protein levels.
Histopathology Core. This core's activities include analysis of muscle tissues from DMD patients, measurement of immune responses of DMD patients, and analysis of immune responses to gene therapy in an animal model.
The MDCRCs study several types of MDs, including (but not limited to):
- Becker MD
- Myotonic dystrophy
- Limb-girdle MD
- Congenital MD
Researchers at the Wellstone MDCRCs engage in a variety of research activities to advance promising approaches for the treatment of MDs, including:
- Therapeutic target identification, characterization, and validation
- Development of diagnostics and biomarkers to characterize or stratify patient populations
In vitro assay development
- Animal model development
- Candidate therapeutic efficacy screening
- Preclinical therapeutic optimization and U.S. Food and Drug Administration-required activities leading to an investigational new drug application
- Clinical research infrastructure
- Patient-oriented natural history studies
- Clinical outcome measure validation
- Cohort characterization and other studies in support of clinical trials
- Early stage clinical trials