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Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of 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: NCT01539772
Recruitment Status : Unknown
Verified June 2018 by Cooperative International Neuromuscular Research Group.
Recruitment status was:  Active, not recruiting
First Posted : February 28, 2012
Last Update Posted : June 15, 2018
Sponsor:
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group

Tracking Information
First Submitted Date February 22, 2012
First Posted Date February 28, 2012
Last Update Posted Date June 15, 2018
Study Start Date April 2012
Estimated Primary Completion Date August 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 25, 2014)
  • Strength and function [ Time Frame: Annual ]
  • Quality of life [ Time Frame: Annual ]
    These questionnaires include:
    • Pediatric Quality of Life Inventory (PedsQL)
    • Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
  • Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests [ Time Frame: Annual ]
Original Primary Outcome Measures Not Provided
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 Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
Official Title PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
Brief Summary This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.
Detailed Description We will utilize the Cooperative International Neuromuscular Research group (CINRG) network to collect cohorts of Becker muscular dystrophy (BMD) patients with in-frame deletions in the dystrophin gene. We will collect clinical data across multiple body systems and correlate these findings to the high-resolution deletion break-point mapping performed from the tissue samples. We will investigate the observed variability to deepen our understanding of molecular mechanisms relevant to the optimization of exon skipping therapeutic approaches.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.
Condition Becker Muscular Dystrophy
Intervention Not Provided
Study Groups/Cohorts Becker

BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.

.
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: April 19, 2016)		 85
Original Estimated Enrollment
 (submitted: February 27, 2012)		 80
Estimated Study Completion Date August 2018
Estimated Primary Completion Date August 2018   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Male
  • Age 4 or older
  • Diagnosis of BMD with an in-frame deletion in the dystrophin gene, where the boundaries of the mutations are confirmed.

Exclusion Criteria:

• Investigator assessment of inability to comply with protocol
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,   Italy,   United Kingdom,   United States
Removed Location Countries Argentina,   Israel
 
Administrative Information
NCT Number NCT01539772
Other Study ID Numbers PITT0112
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
Study Chair: Paula R Clemens, MD University of Pittsburgh
PRS Account Cooperative International Neuromuscular Research Group
Verification Date June 2018