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
ClinicalTrials.gov Identifier:
NCT01539772
First Posted: February 28, 2012
Last Update Posted: January 24, 2017
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
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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
Becker Muscular Dystrophy
Duchenne 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
Information from the National Library of Medicine
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| 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
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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 |
| First Submitted: | February 22, 2012 |
| 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 |