Studies & Trials

To get up to date information on clinical studies and trials, visit  the CMD International Registry.

At Cure CMD we are working to identify all possible therapeutic targets, while continuing to support basic science research efforts that may translate into therapeutic approaches. Our goal and mission is to find a cure for all CMDs. Currently, there are no effective treatment options for any of the CMDs. The first step for Cure CMD may be to identify one or several combination therapies that slow the progression of disease.

By attending scientific and medical conferences, we seek to increase CMD awareness and attract new interest to the field of CMD research. We hope to improve the diagnostic journey for our children by educating physicians and supporting efforts to develop standardized algorithms for diagnosis and treatment.

Potential CMD Therapeutic Targets and Research Projects

  • Identify and validate biomarkers and clinical patient measures to evaluate drug efficacy
  • Establish animal models for all CMD subtypes
  • Apoptosis (programmed cell death) and role of calcium in apoptosis
  • Gene therapy
    1. viral
    2. nonviral
  • High throughput drug screening using existing compounds
  • Identification of novel (new) drug compounds
  • Enzyme replacement therapy or upregulation of LARGE in dystroglycanopathies
  • Identification of inflammatory mediators
    1. effect of prednisone in CMD, is there a role for maintenance therapy in a subset of patients?
    2. downstream immune effects from muscle cell breakdown
    3. role of serine kinases and immune mediators
  • Mutation specific targeting:
    1. missense mutation: protein folding
    2. nonsense mutation: stop codon
    3. point mutation: oligonucleotide mediated gene repair
    4. exon skipping strategies
  • Stem cell therapy
    1. multipotent adult progenitor cells
    2. satellite cell population
    3. embryonic stem cells
  • Establishment of a clinical trial network

For an explanation:

To view MDCC Action Plan:

  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

  • Register Now!