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

Becker Muscular Dystrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01539772
• Other study ID #: PITT0112
• Status: Active, not recruiting
• Start date: April 2012
• Est. completion date: August 2018

Study information

• Verified date: June 2018
• Source: Cooperative International Neuromuscular Research Group
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 85
• Est. completion date: August 2018
• Est. primary completion date: August 2018
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 4 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Becker Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Locations

Country	Name	City	State
Canada	Alberta Children's Hospital	Calgary	Alberta
Italy	Centro Clinico Nemo	Milan
United Kingdom	Institute of Genetic Medicine - Newcastle University	Newcastle upon Tyne
United States	Children's Healthcare of Atlanta	Atlanta	Georgia
United States	Carolinas Medical Center	Charlotte	North Carolina
United States	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois
United States	UT Southwestern Medical Center	Dallas	Texas
United States	Duke Children's Hospital and Health Center	Durham	North Carolina
United States	University of Florida	Gainesville	Florida
United States	Penn State Hershey Medical Center	Hershey	Pennsylvania
United States	University of Tennessee	Memphis	Tennessee
United States	University of Minnesota	Minneapolis	Minnesota
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	University of California Davis	Sacramento	California
United States	Washington University	Saint Louis	Missouri
United States	Children's National Health System	Washington	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
Cooperative International Neuromuscular Research Group

Countries where clinical trial is conducted

United States,  Canada,  Italy,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Strength and function		Annual
Primary	Quality of life	These questionnaires include: Pediatric Quality of Life Inventory (PedsQL); Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)	Annual
Primary	Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests		Annual