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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Duchenne muscular dystrophy |
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| Measure | Description | Time Frame |
|---|---|---|
| Tissue Collection | Collection of blood, skin and optional muscle samples | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. DMD participants over 4 years of age with known mutations that could be targeted by exon skipping therapies will be recruited for this study.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California Davis | Sacramento | California | United States | |||
| Stanford University Medical Center |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
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Blood samples with DNA Skin samples Muscle samples (optional)
| Stanford |
| California |
| United States |
| Children's National Health System | Washington D.C. | District of Columbia | United States |
| Johns Hopkins University School of Medicine, Kennedy Krieger | Baltimore | Maryland | United States |
| Carolinas Medical Center | Charlotte | North Carolina | United States |
| Duke Children's Hospital and Health Center | Durham | North Carolina | United States |
| University of Pittsburgh | Pittsburgh | Pennsylvania | United States |
| University of Tennessee | Memphis | Tennessee | United States |
| Alberta Children's Hospital | Calgary | Alberta | Canada |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |