Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
- Conditions
- Duchenne Muscular Dystrophy
- Registration Number
- NCT01772043
- Lead Sponsor
- Cooperative International Neuromuscular Research Group
- 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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- Male
- Target Recruitment
- 53
- 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.
- Investigator assessment of inability to comply with blood and skin sample collection
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Tissue Collection 1 day Collection of blood, skin and optional muscle samples
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (9)
Johns Hopkins University School of Medicine, Kennedy Krieger
🇺🇸Baltimore, Maryland, United States
University of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
University of Tennessee
🇺🇸Memphis, Tennessee, United States
Stanford University Medical Center
🇺🇸Stanford, California, United States
Children's National Health System
🇺🇸Washington, District of Columbia, United States
Carolinas Medical Center
🇺🇸Charlotte, North Carolina, United States
University of California Davis
🇺🇸Sacramento, California, United States
Duke Children's Hospital and Health Center
🇺🇸Durham, North Carolina, United States
Alberta Children's Hospital
🇨🇦Calgary, Alberta, Canada