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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01539772

Enrollment

Registered

2012-02-28

Start date

2012-04-30

Completion date

2018-08-31

Last updated

2018-06-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Becker Muscular Dystrophy

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 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

4 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame	Description
Strength and function	Annual	—
Quality of life	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	Annual	—

Countries

Canada, Italy, United Kingdom, United States

Outcome results