Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Cooperative International Neuromuscular Research Group
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
First received: January 17, 2013
Last updated: October 10, 2014
Last verified: October 2014

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.

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)
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.


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.


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

Contact: Lauren P Hache, MS 412-224-2030 lhache@childrensnational.org
Contact: Andrea Smith, MS 412-383-7207 smithal7@upmc.edu

United States, California
University of California Davis Recruiting
Sacramento, California, United States
Contact: Evan DeBie, MS, CCRP    916-734-3993    pmr.research@ucdmc.ucdavis.edu   
Principal Investigator: Craig McDonald, MD         
Stanford University Medical Center Recruiting
Stanford, California, United States
Contact: Danielle McFall       dmcfall@stanford.edu   
Principal Investigator: Carolina Tesi-Rocha, MD         
United States, District of Columbia
Children's National Health System Recruiting
Washington, District of Columbia, United States
Contact: Allyn Toles    202-476-4802    AToles2@childrensnational.org   
Principal Investigator: Mathula Thangarajh, MD, PhD         
United States, Illinois
Lurie Children's Hospital Recruiting
Chicago, Illinois, United States
Contact: Lauren Webb       LWebb@luriechildrens.org   
Principal Investigator: Nancy Kuntz, MD         
United States, Maryland
Johns Hopkins University School of Medicine, Kennedy Krieger Recruiting
Baltimore, Maryland, United States
Contact: Genila Bibat, MD       bibat@kennedykrieger.org   
Principal Investigator: Kathryn Wagner, MD         
United States, North Carolina
Carolinas Medical Center Recruiting
Charlotte, North Carolina, United States
Contact: Jackie Sykes       Jacqueline.Sykes@carolinashealthcare.org   
Principal Investigator: Susan Sparks, MD, PhD         
Duke Children's Hospital and Health Center Not yet recruiting
Durham, North Carolina, United States
Contact: Karen Cornett    919-684-1143    k.cornett@duke.edu   
Principal Investigator: Edward Smith, MS         
United States, Pennsylvania
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States
Contact: Andrea Smith, MS    412-383-7207    smithal7@upmc.edu   
Principal Investigator: Paula Clemens, MD         
Sub-Investigator: Hoda Abdel-Hamid, MD         
United States, Tennessee
University of Tennessee Recruiting
Memphis, Tennessee, United States
Contact: Meegan Barrett       mbarret9@uthsc.edu   
Principal Investigator: Tulio Bertorini, MD         
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States
Contact: Robert McNeil       rmcneil@bcm.tmc.edu   
Principal Investigator: Timothy Lotze, MD         
Canada, Alberta
Alberta Children's Hospital Recruiting
Calgary, Alberta, Canada
Contact: Jean Mah       jean.mah@albertahealthservices.ca   
Principal Investigator: Jean Mah, MD         
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: October 10, 2014
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 May 21, 2015