Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
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

Tracking Information
First Submitted Date January 17, 2013
First Posted Date January 21, 2013
Last Update Posted Date July 28, 2015
Study Start Date September 2012
Estimated Primary Completion Date August 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 18, 2013)
Tissue Collection [ Time Frame: 1 day ]
Collection of blood, skin and optional muscle samples
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
Official Title Not Provided
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood samples with DNA Skin samples Muscle samples (optional)
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.
Condition Duchenne Muscular Dystrophy
Intervention Not Provided
Study Groups/Cohorts Duchenne muscular dystrophy
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Actual Enrollment
 (submitted: July 27, 2015)
53
Original Estimated Enrollment
 (submitted: January 18, 2013)
60
Estimated Study Completion Date August 2016
Estimated Primary Completion Date August 2016   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: Male
Ages 4 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Canada,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01772043
Other Study ID Numbers CHAR0312
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Cooperative International Neuromuscular Research Group
Study Sponsor Cooperative International Neuromuscular Research Group
Collaborators Not Provided
Investigators Not Provided
PRS Account Cooperative International Neuromuscular Research Group
Verification Date July 2015