Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
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.
Becker Muscular Dystrophy
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping|
- Strength and function [ Time Frame: Annual ] [ Designated as safety issue: No ]
- Quality of life [ Time Frame: Annual ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
|Study Start Date:||April 2012|
|Estimated Study Completion Date:||March 2017|
|Estimated Primary Completion Date:||March 2017 (Final data collection date for primary outcome measure)|
BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01539772
|Contact: Lauren P Hache, MS, CGCemail@example.com|
|Contact: Andrea Smith, MS, CGCfirstname.lastname@example.org|
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|Study Chair:||Paula R Clemens, MD||University of Pittsburgh|