Clinical trial NCT01772043: Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Duchenne Muscular Dystrophy
Keywords: muscular dystrophy
tissue bank
Lead sponsor: Cooperative International Neuromuscular Research Group
Sponsor class: NETWORK
First posted: 2013-01-21
Enrollment: 53
Sex: MALE
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Tissue Collection
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Sacramento
country: United States
facility: University of California Davis
state: California
city: Stanford
country: United States
facility: Stanford University Medical Center
state: California
city: Washington
country: United States
facility: Children's National Health System
state: District of Columbia
city: Baltimore
country: United States
facility: Johns Hopkins University School of Medicine, Kennedy Krieger
state: Maryland
city: Charlotte
country: United States
facility: Carolinas Medical Center
state: North Carolina
city: Durham
country: United States
facility: Duke Children's Hospital and Health Center
state: North Carolina
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Memphis
country: United States
facility: University of Tennessee
state: Tennessee
city: Calgary
country: Canada
facility: Alberta Children's Hospital
state: Alberta
Study officials:
References: