Duchenne Muscular Dystrophy
Conditions
Keywords
muscular dystrophy, tissue bank
Brief summary
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.
Detailed description
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: 10-52, 13-50, 29-50, 43-52, 44, 43-50, 45-50, 45-52, 46, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55, 46-60, 47-50, 47-52, 48-50, 49-50, 50, 52, 52-63, 48-52, 49-52, 50-52. These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.
Interventions
None listed
Sponsors
Cooperative International Neuromuscular Research Group
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age 4 and above * Diagnosis of DMD with a confirmed out-of-frame dystrophin gene deletions 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Tissue Collection | 1 day | Collection of blood, skin and optional muscle samples |
Countries
Canada, United States
Outcome results
None listed