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Becker Muscular Dystrophy – A Natural History Study to Predict Efficacy of Exon Skipping
study id #: NCT01539772
condition: Becker Muscular Dystrophy
status: active, not recruitingpurpose:
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.
mechanism of action: Exon-skipping to promote dystrophin production
start date: April 2012
estimated completion: August 2018
size / enrollment: 85
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.
- 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]
• 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
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