Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

July 27, 2015 updated by: Cooperative International Neuromuscular Research Group
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.

Study Overview

Status

Unknown

Conditions

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 Type

Observational

Enrollment (Actual)

53

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Alberta
      • Calgary, Alberta, Canada
        • Alberta Children's Hospital
  • United States
    • California
      • Sacramento, California, United States
        • University of California Davis
      • Stanford, California, United States
        • Stanford University Medical Center
    • District of Columbia
      • Washington, District of Columbia, United States
        • Children's National Health System
    • Maryland
      • Baltimore, Maryland, United States
        • Johns Hopkins University School of Medicine, Kennedy Krieger
    • North Carolina
      • Charlotte, North Carolina, United States
        • Carolinas Medical Center
      • Durham, North Carolina, United States
        • Duke Children's Hospital and Health Center
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States
        • University of Pittsburgh
    • Tennessee
      • Memphis, Tennessee, United States
        • University of Tennessee

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 months and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Duchenne muscular dystrophy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Tissue Collection
Time Frame: 1 day
Collection of blood, skin and optional muscle samples
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cooperative International Neuromuscular Research Group

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2012

Primary Completion (Anticipated)

August 1, 2016

Study Completion (Anticipated)

August 1, 2016

Study Registration Dates

First Submitted

January 17, 2013

First Submitted That Met QC Criteria

January 18, 2013

First Posted (Estimate)

January 21, 2013

Study Record Updates

Last Update Posted (Estimate)

July 28, 2015

Last Update Submitted That Met QC Criteria

July 27, 2015

Last Verified

July 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHAR0312

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Duchenne Muscular Dystrophy

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Brazil

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe