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

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

Brief Summary: 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.

Detailed Summary: 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.
Sponsor: Cooperative International Neuromuscular Research Group

Current Primary Outcome:

  • 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 ]


Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Cooperative International Neuromuscular Research Group

Dates:
Date Received: February 22, 2012
Date Started: April 2012
Date Completion: March 2017
Last Updated: January 23, 2017
Last Verified: January 2017