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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Becker | BMD participants over 4 years of age with in-frame deletions in the dystrophin gene. . |
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| Measure | Description | Time Frame |
|---|---|---|
| Strength and function | Annual | |
| Quality of life | These questionnaires include:
| Annual |
| Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests | Annual |
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Inclusion Criteria:
Exclusion Criteria:
• Investigator assessment of inability to comply with protocol
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BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.
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| Name | Affiliation | Role |
|---|---|---|
| Paula R Clemens, MD | University of Pittsburgh | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California Davis | Sacramento | California | United States | |||
| Children's National Health System |
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| Washington D.C. |
| District of Columbia |
| United States |
| University of Florida | Gainesville | Florida | United States |
| Children's Healthcare of Atlanta | Atlanta | Georgia | United States |
| Ann & Robert H. Lurie Children's Hospital of Chicago | Chicago | Illinois | United States |
| University of Minnesota | Minneapolis | Minnesota | United States |
| Washington University | St Louis | Missouri | United States |
| Carolinas Medical Center | Charlotte | North Carolina | United States |
| Duke Children's Hospital and Health Center | Durham | North Carolina | United States |
| Penn State Hershey Medical Center | Hershey | Pennsylvania | 17033 | United States |
| University of Pittsburgh | Pittsburgh | Pennsylvania | United States |
| University of Tennessee | Memphis | Tennessee | United States |
| UT Southwestern Medical Center | Dallas | Texas | 75390-9036 | United States |
| Alberta Children's Hospital | Calgary | Alberta | Canada |
| Centro Clinico Nemo | Milan | Italy |
| Institute of Genetic Medicine - Newcastle University | Newcastle upon Tyne | United Kingdom |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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