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

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by Cooperative International Neuromuscular Research Group
Sponsor:
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
NCT01539772
First received: February 22, 2012
Last updated: January 22, 2014
Last verified: January 2014

February 22, 2012
January 22, 2014
April 2012
March 2017   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01539772 on ClinicalTrials.gov Archive Site
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Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
PITT0112: 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.

We will utilize the Cooperative International Neuromuscular Research group (CINRG) network to collect cohorts of Becker muscular dystrophy (BMD) patients whose in-frame mutations mirror those that would be generated in Duchenne muscular dystrophy (DMD) patients treated with skipping of exons 45, 51 or 53. 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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
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Non-Probability Sample

BMD participants over 4 years of age with specific in-frame deletions that correspond to the mutations generated by exon skipping of exons 45, 51 or 53

Becker Muscular Dystrophy
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Becker

BMD participants over 4 years of age with in-frame deletions that correspond to the mutations generated by exon skipping of exons 45, 51 or 53.

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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
80
March 2017
March 2017   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Male
  • Age 4 or older
  • Diagnosis of BMD with a positive DMD deletion corresponding to successful exon skipping of an out-of-frame deletion treated with antisense oligonucleotide drugs for exons 45, 51, or 53, where the boundaries of the mutations are confirmed.

Exclusion Criteria:

• Investigator assessment of inability to comply with protocol

Male
4 Years and older
No
Contact: Lauren P Hache, MS, CGC 412-224-2030 lhache@childrensnational.org
Contact: Andrea Smith, MS, CGC 412-383-7207 smithal7@upmc.edu
United States,   Argentina,   Canada,   United Kingdom
 
NCT01539772
PITT0112
Yes
Cooperative International Neuromuscular Research Group
Cooperative International Neuromuscular Research Group
Not Provided
Study Chair: Paula R Clemens, MD University of Pittsburgh
Cooperative International Neuromuscular Research Group
January 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP