Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
NCT01772043
First received: January 17, 2013
Last updated: June 18, 2015
Last verified: June 2015
  Purpose

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.


Condition
Duchenne Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective

Resource links provided by NLM:


Further study details as provided by Cooperative International Neuromuscular Research Group:

Primary Outcome Measures:
  • Tissue Collection [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Collection of blood, skin and optional muscle samples


Biospecimen Retention:   Samples With DNA

Blood samples with DNA Skin samples Muscle samples (optional)


Estimated Enrollment: 60
Study Start Date: September 2012
Estimated Study Completion Date: August 2016
Estimated Primary Completion Date: August 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
Duchenne muscular dystrophy

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

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01772043

Locations
United States, California
University of California Davis
Sacramento, California, United States
Stanford University Medical Center
Stanford, California, United States
United States, District of Columbia
Children's National Health System
Washington, District of Columbia, United States
United States, Maryland
Johns Hopkins University School of Medicine, Kennedy Krieger
Baltimore, Maryland, United States
United States, North Carolina
Carolinas Medical Center
Charlotte, North Carolina, United States
Duke Children's Hospital and Health Center
Durham, North Carolina, United States
United States, Pennsylvania
University of Pittsburgh
Pittsburgh, Pennsylvania, United States
United States, Tennessee
University of Tennessee
Memphis, Tennessee, United States
Canada, Alberta
Alberta Children's Hospital
Calgary, Alberta, Canada
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
  More Information

No publications provided

Responsible Party: Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier: NCT01772043     History of Changes
Other Study ID Numbers: CHAR0312
Study First Received: January 17, 2013
Last Updated: June 18, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Cooperative International Neuromuscular Research Group:
muscular dystrophy
tissue bank

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on July 05, 2015