Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

Duchenne Muscular Dystrophy Clinical Trial

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01772043
• Other study ID #: CHAR0312
• Status: Active, not recruiting
• Phase: N/A
• First received: January 17, 2013
• Last updated: July 27, 2015
• Start date: September 2012
• Est. completion date: August 2016

Study information

• Verified date: July 2015
• Source: Cooperative International Neuromuscular Research Group
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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 information / eligibility

• Status: Active, not recruiting
• Enrollment: 53
• Est. completion date: August 2016
• Est. primary completion date: August 2016
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 4 Years and older

Eligibility

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

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Locations

Country	Name	City	State
Canada	Alberta Children's Hospital	Calgary	Alberta
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 Tennessee	Memphis	Tennessee
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	University of California Davis	Sacramento	California
United States	Stanford University Medical Center	Stanford	California
United States	Children's National Health System	Washington	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
Cooperative International Neuromuscular Research Group

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Tissue Collection	Collection of blood, skin and optional muscle samples	1 day	No