Becker Muscular Dystrophy: A Natural History Study to Predict Efficacy of Exon Skipping
Questions and Answers
What stage is this research?
This study is closed to new enrollment currently, but actively following previously enrolled participants. The investigators were very pleased to have reached and even exceeded their enrollment goals with 84 participants enrolled. The study enrollment officially closed on March 31, 2016.
What is the goal or purpose of this study?
This is a natural history study to characterize the Becker muscular dystrophy clinical presentation and also to provide information regarding the possible effectiveness of a therapy currently in development for Duchenne muscular dystrophy (exon skipping). Researchers will correlate specific genetic changes with a range of clinical outcomes including physical development, mental development, and quality of life in patients with Becker muscular dystrophy. The observed variability between individuals with Becker muscular dystrophy will be studied to deepen our understanding of molecular mechanisms relevant to the optimization of exon skipping therapeutic approaches, as well as to optimize study designs and outcome measures for future clinical trials in Becker muscular dystrophy.
Who is funding this study?
This study is funded by the National Institutes of Health (NIH).
Who was eligible to participate in this study?
Enrolled participants were male with Becker muscular dystrophy, age 4 and above, with an in-frame dystrophin gene deletion where the boundaries of the mutations are confirmed.
Where does this study take place?
This study enrolled participants at select Cooperative International Neuromuscular Research Group (CINRG) network sites and affiliates.
Where can I learn more about this study?
You can learn more about this study at www.clinicaltrials.gov (NCT01539772).