Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | 4 - Any |
| Updated: | 4/21/2016 |
| Start Date: | September 2012 |
| End Date: | August 2016 |
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.
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.
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.
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
We found this trial at
9
sites
Stanford Univ Med Ctr The Medical Center is uniquely advantaged by its location on the...
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University of Pittsburgh The University of Pittsburgh is a state-related research university, founded as the...
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University of California-Davis As we begin our second century, UC Davis is poised to become...
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