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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- Male
- Target Recruitment
- 85
- 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.
• 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)Strength and function Annual Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests Annual
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (16)
UT Southwestern Medical Center
🇺🇸Dallas, Texas, United States
University of Tennessee
🇺🇸Memphis, Tennessee, United States
Alberta Children's Hospital
🇨🇦Calgary, Alberta, Canada
Institute of Genetic Medicine - Newcastle University
🇬🇧Newcastle upon Tyne, United Kingdom
University of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
Penn State Hershey Medical Center
🇺🇸Hershey, Pennsylvania, United States
Centro Clinico Nemo
🇮🇹Milan, Italy
University of California Davis
🇺🇸Sacramento, California, United States
Children's National Health System
🇺🇸Washington, District of Columbia, 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
Children's Healthcare of Atlanta
🇺🇸Atlanta, Georgia, United States
University of Florida
🇺🇸Gainesville, Florida, United States