Natural History Studies – Neuromuscular Research Center

Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping.


Principal Investigator

Craig McDonald, M.D.


Contact

Evan de Bie, B.S., C.C.R.P.
pmr_research@ucdavis.edu
916-734-3993


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.

Intervention(s)

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


Eligibility

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