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Department of Physical Medicine and Rehabilitation

Department of Physical Medicine and Rehabilitation

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Clinical Research Studies

CINRGDMD Tissue Bank Natural History Study

Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

Principal Investigator:

Craig McDonald, M.D.


Evan de Bie, BS CCRP

Study Details:

Brief Summary
The purpose of this tissue bank is to collect blood and skin samples from participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene. The specific dystrophin changes that we are interested in studying are those that would work with exon-skipping therapies in patients with DMD, specifically deletions of the follow exons: 44, 45-50, 45-52, 46-47, 46-48, 46-51, 48-50, 48-52, and 49-50. These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.

There are no interventions for this study. We call these studies "Natural History Studies"

For more details please visit:

The Cooperative International Neuromuscular Research Group


Inclusion Criteria:

  • Age 4 and above
  • Diagnosis of DMD confirmed by the central CINRG genetic counselor with evidence of an out-offrame deletion(s) that could be corrected by skipping exon 45, 51, or 53 based on past genetic testing 

Exclusion Criteria: 

  • Investigator assessment of inability to comply with blood and skin sample collection 

Recruitment Status

Currently Recruiting