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

Study Description

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.

Condition or disease
Becker Muscular Dystrophy

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.

Study Design

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Actual Enrollment :	85 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
Study Start Date :	April 2012
Estimated Primary Completion Date :	March 2017
Estimated Study Completion Date :	March 2017

Groups and Cohorts

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
Becker; BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.

Outcome Measures

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. Strength and function [ Time Frame: Annual ]
2. Quality of life [ Time Frame: Annual ]

   These questionnaires include:

   • Pediatric Quality of Life Inventory (PedsQL)
   • Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
3. Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests [ Time Frame: Annual ]

Eligibility Criteria

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	4 Years and older (Child, Adult, Senior)
Sexes Eligible for Study:	Male
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

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

Criteria

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

Contacts and Locations

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

United States, California
University of California Davis
Sacramento, California, United States
United States, District of Columbia
Children's National Health System
Washington, District of Columbia, United States
United States, Florida
University of Florida
Gainesville, Florida, United States
United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States
United States, Missouri
Washington University
St. Louis, Missouri, United States
United States, North Carolina
Carolinas Medical Center
Charlotte, North Carolina, United States
Duke Children's Hospital and Health Center
Durham, North Carolina, United States
United States, Pennsylvania
Penn State Hershey Medical Center
Hershey, Pennsylvania, United States, 17033
University of Pittsburgh
Pittsburgh, Pennsylvania, United States
United States, Tennessee
University of Tennessee
Memphis, Tennessee, United States
Canada, Alberta
Alberta Children's Hospital
Calgary, Alberta, Canada
Italy
Centro Clinico Nemo
Milan, Italy
United Kingdom
Institute of Genetic Medicine - Newcastle University
Newcastle upon Tyne, United Kingdom

Sponsors and Collaborators

Cooperative International Neuromuscular Research Group

Investigators

Study Chair:	Paula R Clemens, MD	University of Pittsburgh

More Information

Go to 

Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:	NCT01539772 History of Changes
Other Study ID Numbers:	PITT0112
First Posted:	February 28, 2012
Last Update Posted:	January 24, 2017
Last Verified:	January 2017

Additional relevant MeSH terms:

Muscular Dystrophies; Muscular Dystrophy, Duchenne; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases	Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked