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| ID | Type | Description | Link |
|---|---|---|---|
| GRASP-BMD | Other Identifier | Virginia Commonwealth University |
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| Name | Class |
|---|---|
| Edgewise Therapeutics, Inc. | INDUSTRY |
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This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)
Becker Muscular Dystrophy (BMD) is most frequently due to in-frame mutations in the dystrophin gene that are associated with reduced levels of frequently shortened dystrophin, though other mutations may be related to the Becker phenotype. There is wide variation in the age of onset and degree of progression, ranging from childhood to late adulthood. The more severe form of dystrophinopathy, Duchenne muscular dystrophy, has a more characteristic rate of progression and overall natural history. The wide variation in severity of progression has led to challenges in the design and conduct of approaching therapeutic trials. There is a need for a more rigorous natural history study to assist in the design of these promising therapeutic trials.
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| Measure | Description | Time Frame |
|---|---|---|
| To assess the natural history of measures of muscle function in BMD | North Star Assessment for LGMD (NSAD: The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD and is being evaluated in BMD due to the similar limb-girdle pattern of weakness. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities. | Through study completion, an average of 2 years |
| 4-Stair Climb | Participants will perform the 4-stair climb with instructions to ascend 4 steps as quickly and as safely possible, using handrails if needed. | Through study completion, an average of 2 years |
| 100-Meter Timed Test | The participant will be asked to complete 4 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able and the time in seconds is recorded. | Through study completion, an average of 2 years |
| PERFORMANCE OF UPPER LIMB 2.0 (PUL) | The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders. | Through study completion, an average of 2 years |
| HAND HELD DYNAMOMETRY (HHD) AND GRIP | Hand held dynamometry using the MicroFET2 myometer will be utilized to capture isometric strength in target muscle groups. Maximum strength in kilograms will be reported for each muscle group provided a continuous scale variable for analysis. CITEC myometer will be used to measure the and Grip of the subject. These pinch and grip techniques will also capture the maximum strength in newtons for the muscle groups involved. |
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| Measure | Description | Time Frame |
|---|---|---|
| To assess the natural history of MR measures of muscle quality in BMD | MAGNETIC RESONANCE IMAGING FAT FRACTION: This assessment measures fat fraction using chemical shift-based, often called Dixon, imaging and will be performed in axial plane at the thigh and lower leg. | Through study completion, an average of 2 years |
Inclusion Criteria:
For ages 6-12
For ages 13 and older
For participants in the MRI substudy:
1. Ambulatory, defined as able to walk 10 meters without assistive devices (orthotics allowed)
Exclusion Criteria:
For ages 6-12
For ages 13 and older
Becker Muscular Dystrophy affects males.
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Individuals age 6+ who are clinically affected with Becker Muscular Dystrophy
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| Name | Affiliation | Role |
|---|---|---|
| Nicholas E. Johnson, MD | Virginia Commonwealth University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, Irvine | Orange | California | 92868 | United States | ||
| University of Colorado Anschutz Medical Campus |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37591308 | Derived | Straub V, Guglieri M. An update on Becker muscular dystrophy. Curr Opin Neurol. 2023 Oct 1;36(5):450-454. doi: 10.1097/WCO.0000000000001191. Epub 2023 Aug 21. |
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Blood samples will be taken for biomarker development and retained for future research. No clinical diagnosis will be given to patients.
| Through study completion, an average of 2 years |
| TIMED UP-AND-GO (TUG) | The TUG will be administered using the appropriate stable seating surface (i.e., cube chair or straight back chair) to achieve 90 degree of both hip and knee flexion when participant is seated with both feet flat on the floor to start. The test should be performed barefoot. The fastest time to stand from the chair, walk 3 meters, and return to seated, will be recorded. | Through study completion, an average of 2 years |
| Measures of Pulmonary Function (Seated and supine FVC) | Spirometry will be performed in a sitting and supine position using standardized equipment. Forced vital capacity (FVC) sitting and supine. | Through study completion, an average of 2 years |
| Measures of Pulmonary Function (MEP and MIP) | Sitting maximal expiratory and inspiratory pressures (MEP and MIP) will be assessed. | Through study completion, an average of 2 years |
| Measures of Pulmonary Function (other) | Use of nocturnal or daytime positive pressure ventilation (PPV) (e.g., BiPAP or CPAP) will be recorded. | Through study completion, an average of 2 years |
| Measure of ejection fraction (ECHO) | A transthoracic echocardiogram (ECHO) will be performed. Measures of ejection fraction will be recorded. | Through study completion, an average of 2 years |
| Measure of systolic and diastolic function (ECHO) | A transthoracic echocardiogram (ECHO) will be performed. Measures of presence of systolic and diastolic function will be recorded. | Through study completion, an average of 2 years |
| MAGNETIC RESONANCE IMAGING TRANSVERSE RELAXATION TIME (T2) |
This assessment measures muscle quality using T2 weighted imaging and will be performed in axial plane at the thigh and lower leg. |
| Through study completion, an average of 2 years |
| MAGNETIC RESONANCE SPECTROSCOPY TRANSVERSE RELAXATION TIME (T2) | Single voxel multiecho magnetic resonance spectra will be acquired for the calculation of water transverse relaxation time. | Through study completion, an average of 2 years |
| Biomarker Assessment - Blood Sampling | A blood sample will be collected at the baseline visit to obtain DNA samples for biomarker discovery. Serum will be collected at each in-person visit for other exploratory biomarkers. These samples will be stored in the biorepository, and provide the foundation for future pilot projects, and serve as a resource to the greater BMD community. | Through study completion, an average of 2 years |
| Aurora |
| Colorado |
| 80045 |
| United States |
| University of Iowa | Iowa City | Iowa | 52242 | United States |
| University of Kansas Medical Center | Kansas City | Kansas | 66160 | United States |
| Kennedy Krieger Institute | Baltimore | Maryland | 21205 | United States |
| University of Minnesota | Minneapolis | Minnesota | 55455 | United States |
| Washington University School of Medicine | St Louis | Missouri | 63110 | United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States |
| Virginia Commonwealth University | Richmond | Virginia | 23298 | United States |
| University of Auckland | Auckland | New Zealand |
| John Walton Muscular Dystrophy Research Centre | Newcastle upon Tyne | NE1 4EP | United Kingdom |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| 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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