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| Name | Class |
|---|---|
| CureDuchenne | OTHER |
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This study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.
Magnetic Resonance Imaging (MRI) of the heart and breathing muscles, special breathing tests (called pulmonary function testing), special exercise tests (using a stationary bike), and possibly an echocardiogram (ultrasound of the heart, commonly known as an "echo") will be completed up to 4 times per year for up to 4 years. Most participants will complete testing once or twice each year; however, some participants will be asked to repeat some of the tests twice during each visit.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individuals with DMD | Magnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status. Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Magnetic Resonance Imaging (MRI) | Other | It is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. |
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| Measure | Description | Time Frame |
|---|---|---|
| Magnetic Resonance (MRI) T2 and Magnetic Resonance Spectroscopy (MRS) | The MRI T2 and MRS will be used as a noninvasive marker of myocardial damage/inflammation of participants of this study as an early detection for DMD. | up to 4 years |
| Measure | Description | Time Frame |
|---|---|---|
| Pulmonary Function Testing (PFT) | Non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. | up to 4 years |
| Metabolic Exercise Testing (exercise capacity and MVO2) |
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Inclusion Criteria:
Exclusion Criteria:
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As the focus of this study is on validating novel measures of cardiac and respiratory function in individuals with DMD, this study will utilize a single-group design with up to 60 males with DMD between 5 and 15 years old upon entry to the study. The participant selection is limited to children since the detrimental effects of DMD begin in early childhood, and the life expectancy of these boys is shortened to the early- to mid-20s. Only males will be eligible to participate in the study because DMD is an X-linked recessive genetic disorder that only leads to the characteristic disease in males. Although females may be carriers, they do not exhibit the same phenotype as males.
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| Name | Affiliation | Role |
|---|---|---|
| Barry Byrne, MD, PhD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinical and Translational Research Building | Gainesville | Florida | 32610 | United States |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| ID | Term |
|---|---|
| D009682 | Magnetic Resonance Spectroscopy |
| D012143 | Respiratory Physiological Phenomena |
| ID | Term |
|---|---|
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
| D002943 | Circulatory and Respiratory Physiological Phenomena |
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| Pulmonary Function Testing (PFT) | Other | It is non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. |
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| Metabolic Exercise Testing using stationary bicycle | Other | Metabolic exercise testing, including assessment of exercise capacity and MVO2, evaluates global cardiopulmonary functional status. This is performed with the use of a stationary bicycle. |
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| Echocardiogram | Other | The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure. |
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With the use of metabolic exercise testing, the aim is to correlate changes in cardiopulmonary function with decline in peripheral skeletal muscle function in individuals with DMD. Metabolic exercise testing includes measuring exercise capacity and maximum oxygen consumption (MVO2).
| up to 4 years |
| Multiple-echo Dixon | The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure. This method and MRS will also be used for fat fraction determination. | up to 4 years |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |