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

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

key information

study id #: NCT01539772

condition: Becker Muscular Dystrophy

status: active, not recruiting

purpose:

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

results: https://clinicaltrials.gov/ct2/show/results/NCT01539772

last updated: November 22, 2018

study details

start date: April 2012

estimated completion: August 2018

size / enrollment: 85

study 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.

primary outcomes:

  • 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]

inclusion criteria:
• 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.

exclusion criteria:
Investigator assessment of inability to comply with protocol

study contacts

sponsor: Cooperative International Neuromuscular Research Group

investigators: Paula R Clemens, MD

locations: United States, Canada, Italy, United Kingdom