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

This study is ongoing, but not recruiting participants.

Sponsor:

Information provided by (Responsible Party):

Cooperative International Neuromuscular Research Group

ClinicalTrials.gov Identifier:

NCT01539772

First received: February 22, 2012

Last updated: April 19, 2016

Last verified: April 2016

History of Changes

Purpose

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
Becker Muscular Dystrophy


Study Type:	Observational
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Official Title:	PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

Resource links provided by NLM:

Genetics Home Reference related topics: Duchenne and Becker muscular dystrophy

MedlinePlus related topics: Muscular Dystrophy

Genetic and Rare Diseases Information Center resources: Muscular Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy

U.S. FDA Resources

Further study details as provided by Cooperative International Neuromuscular Research Group:

Primary Outcome Measures:

Strength and function [ Time Frame: Annual ] [ Designated as safety issue: No ]
Quality of life [ Time Frame: Annual ] [ Designated as safety issue: No ]
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 [ Time Frame: Annual ] [ Designated as safety issue: No ]


Enrollment:	85
Study Start Date:	April 2012
Estimated Study Completion Date:	March 2017
Estimated Primary Completion Date:	March 2017 (Final data collection date for primary outcome measure)

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

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.

Eligibility


Ages Eligible for Study:	4 Years and older (Child, Adult, Senior)
Genders 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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01539772

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


Responsible Party:	Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:	NCT01539772 History of Changes
Other Study ID Numbers:	PITT0112
Study First Received:	February 22, 2012
Last Updated:	April 19, 2016
Health Authority:	United States: Institutional Review Board

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

ClinicalTrials.gov processed this record on September 23, 2016

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