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

Cooperative International Neuromuscular Research Group (CINRG)

Status: Unknown

Conditions: Becker Muscular Dystrophy

Study type: Observational

Funder types: NETWORK

Identifiers

NCT01539772

PITT0112

Details and patient eligibility

About

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.

Full 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.

Enrollment: 85 patients

Sex: Male

Ages: 4+ years old

Volunteers: No Healthy Volunteers

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

Trial design

85 participants in 1 patient group

Becker

Description:

BMD participants over 4 years of age with in-frame deletions in the dystrophin gene. .