Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs)

Overview

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 NIH to establish centers of excellence for research on these diseases. The MDSRC program (formerly the Muscular Dystrophy Cooperative Research Centers program) was later named in honor of Senator Paul D. Wellstone, a champion of MD research, as the Paul D. Wellstone MDSRCs.

The goal of the Wellstone MDSRCs is to foster the translation of new scientific findings and technological developments into novel treatments for MDs. MDSRCs 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 NICHD's Intellectual and Developmental Disabilities Branch (IDDB); the National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Heart, Lung, and Blood Institute; and National Institute of Neurological Disorders and Stroke. NICHD currently funds two centers. NICHD also supports research and training on MD through several other mechanisms.

Each MDSRC 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 cores that support specific MDSRC projects and serve as a resource for the international MD research community. Current NICHD-funded cores 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.

Topic Areas

MDSRCs study several types of MDs, including:

  • FSHD
  • DMD
  • Becker MD
  • Myotonic dystrophy
  • Limb-girdle MD
  • Congenital MD

Researchers at the Wellstone MDSRCs engage in a variety of research activities to advance promising approaches for the treatment of MDs, including:

  • Characterizing disease natural history or genotype/phenotype correlations
  • Characterizing and/or validating molecular, biochemical, physiological, imaging, or other types of biomarkers for use in therapy development or clinical trials
  • Developing and/or validating clinical outcome assessment measures, including patient-reported outcome measures or clinical scales for use in clinical trials
  • Identifying new MD-causing genetic mutations
  • Identifying, characterizing, and validating therapeutic targets
  • Identifying and validating genetic or epigenetic modifiers of disease presentation or severity
  • Engineering and characterizing new cell or animal models of disease to advance studies of pathophysiology or preclinical translation
  • Screening, optimizing, and preclinical testing of candidate therapeutics
  • Engaging in activities leading to investigational new drug or investigational device exemption applications to the Food and Drug Administration
  • Identifying epidemiological, behavioral, or health outcomes with the eventual goal of reducing overall consequences of disease
  • Conducting early-stage clinical trials

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