Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

• Conditions: Becker Muscular Dystrophy

• Registration Number: NCT01539772
• Lead Sponsor: Cooperative International Neuromuscular Research Group

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 Timeline

• Study First Submitted: 2012-02-22
• Study First Submitted QC: 2012-02-27
• Study First Posted: 2012-02-28
• Study Start: 2012-04
• Status Verified: 2018-06
• Last Update Submitted: 2018-06-14
• Last Update Posted: 2018-06-15
• Primary Completion: 2018-08
• Study Completion: 2018-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Male
• Target Recruitment: 85

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Quality of life	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	Annual
Strength and function	Annual

Trial Locations

Locations (16)

University of California Davis; 🇺🇸 Sacramento, California, United States

Children's National Health System; 🇺🇸 Washington, District of Columbia, United States

University of Florida; 🇺🇸 Gainesville, Florida, United States

Children's Healthcare of Atlanta; 🇺🇸 Atlanta, Georgia, United States

Ann & Robert H. Lurie Children's Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States

Washington University; 🇺🇸 Saint Louis, Missouri, United States

Carolinas Medical Center; 🇺🇸 Charlotte, North Carolina, United States

Duke Children's Hospital and Health Center; 🇺🇸 Durham, North Carolina, United States

Penn State Hershey Medical Center; 🇺🇸 Hershey, Pennsylvania, United States

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