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

NCT01539772 | Unknown DMC

• 1 other identifier: PITT0112
• Study Type: observational
• Target: 85
• Locations: 4 countries
• Sites: 16

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.

Conditions

Becker Muscular Dystrophy

Outcome Measures

Primary Outcomes (3)

• Strength and function

  Annual

• Quality of life

  These questionnaires include: * Pediatric Quality of Life Inventory (PedsQL) * Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)

  Annual

• Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests

  Annual

Study Arms (1)

Becker

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

Eligibility Criteria

• Age: 4 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• Investigator assessment of inability to comply with protocol

Sponsors & Collaborators

• Cooperative International Neuromuscular Research Group: lead

Study Sites (16)

University of California Davis

Sacramento, California, United States

Location

Children's National Health System

Washington D.C., District of Columbia, United States

Location

University of Florida

Gainesville, Florida, United States

Location

Children's Healthcare of Atlanta

Atlanta, Georgia, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Location

University of Minnesota

Minneapolis, Minnesota, United States

Location

Washington University

St Louis, Missouri, United States

Location

Carolinas Medical Center

Charlotte, North Carolina, United States

Location

Duke Children's Hospital and Health Center

Durham, North Carolina, United States

Location

Penn State Hershey Medical Center

Hershey, Pennsylvania, 17033, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Location

University of Tennessee

Memphis, Tennessee, United States

Location

UT Southwestern Medical Center

Dallas, Texas, 75390-9036, United States

Location

Alberta Children's Hospital

Calgary, Alberta, Canada

Location

Centro Clinico Nemo

Milan, Italy

Location

Institute of Genetic Medicine - Newcastle University

Newcastle upon Tyne, United Kingdom

Location

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Paula R Clemens, MD

  University of Pittsburgh

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 22, 2012
• First Posted: February 28, 2012
• Study Start: April 1, 2012
• Primary Completion: August 1, 2018
• Study Completion: August 1, 2018
• Last Updated: June 15, 2018

Record last verified: 2018-06

Locations

US (13); CA (1); IT (1); GB (1)