Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

Cooperative International Neuromuscular Research Group (CINRG)

Status: Unknown

Conditions: Duchenne Muscular Dystrophy

Study type: Observational

Funder types: NETWORK

Identifiers

NCT01772043

CHAR0312

Details and patient eligibility

About

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.

Full 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.

Enrollment: 53 patients

Sex: Male

Ages: 4+ years old

Volunteers: No Healthy Volunteers

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

Trial design

53 participants in 1 patient group

Duchenne muscular dystrophy