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Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
This study is ongoing, but not recruiting participants.
Sponsor:
Cooperative International Neuromuscular Research Group
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
NCT01539772
First received: February 22, 2012
Last updated: January 23, 2017
Last verified: January 2017
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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 ]
- Quality of life [ Time Frame: 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 [ Time Frame: Annual ]
| 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) |
| 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
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01539772
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: | January 23, 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 |
ClinicalTrials.gov processed this record on June 23, 2017