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Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

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ClinicalTrials.gov Identifier: NCT01772043
Recruitment Status : Unknown
Verified July 2015 by Cooperative International Neuromuscular Research Group.
Recruitment status was:  Active, not recruiting
First Posted : January 21, 2013
Last Update Posted : July 28, 2015
Sponsor:
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group

Study Description
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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.

Condition or disease
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.

Study Design
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Study Type : Observational
Actual Enrollment : 53 participants
Observational Model: Cohort
Time Perspective: Prospective
Study Start Date : September 2012
Estimated Primary Completion Date : August 2016
Estimated Study Completion Date : August 2016

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Duchenne muscular dystrophy


Outcome Measures
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Primary Outcome Measures :
  1. Tissue Collection [ Time Frame: 1 day ]
    Collection of blood, skin and optional muscle samples


Biospecimen Retention:   Samples With DNA
Blood samples with DNA Skin samples Muscle samples (optional)

Eligibility Criteria
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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes 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
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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01772043


Locations
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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
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Responsible Party: Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier: NCT01772043    
Other Study ID Numbers: CHAR0312
First Posted: January 21, 2013    Key Record Dates
Last Update Posted: July 28, 2015
Last Verified: July 2015
Keywords provided by Cooperative International Neuromuscular Research Group:
muscular dystrophy
tissue bank
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
 Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked