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| ID | Type | Description | Link |
|---|---|---|---|
| Internal Bridge Funding | Other Identifier | Children's Research Institute,Children's National |
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Muscular Dystrophy can affect the skeletal muscles and also the heart and breathing muscles, causing significant morbidity and mortality. As patients are now living longer, treatment of muscular dystrophies involves drugs that help improve heart function. However, better types of heart imaging studies are needed to understand how these treatments work. Researchers want to improve heart imaging to identify earlier indicators of heart dysfunction in muscular dystrophy patients and how these are changed by medical treatment. The new imaging indicators will also help identify candidates for entry into future clinical trials.
Cardiomyopathy causes significant morbidity and mortality in multiple forms of muscular dystrophy affecting children, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Pharmaceutical treatments for the cardiomyopathy of muscular dystrophy, including angiotensin-converting enzyme (ACE) inhibition and beta-adrenergic receptor blockade, afford significant benefit and demonstrate cardiac remodeling in clinical studies. Further studies are needed to identify and characterize more sensitive indicators of cardiac dysfunction in muscular dystrophy subjects to better stratify subjects for entry into clinical protocols.
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| Measure | Description | Time Frame |
|---|---|---|
| Myocardial characterization of fibrosis in patients with muscular dystrophy using contrast based magnetic resonance imaging | At the end of each MRI scan through study completion, up to 5 years. |
| Measure | Description | Time Frame |
|---|---|---|
| Measure the amount of intramyocardial fibrosis using extracellular volume measurements | At the end of each MRI scan through study completion, up to 5 years. | |
| Identification and validation of serum biomarker ST2 (Interleukin 1 receptor-like 1 protein ) in the presence of myocardial fibrosis. |
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Inclusion Criteria:
Exclusion Criteria:
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Male or females at least 6 years of age with a diagnosis of Duchenne, Becker, or Limb Girdle Muscular Dystrophy.
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| Name | Affiliation | Role |
|---|---|---|
| Christopher Spurney, MD | Children's National Research Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's National Health System | Washington D.C. | District of Columbia | 20010 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
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| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D030342 | Genetic Diseases, Inborn |
| D009140 | Musculoskeletal Diseases |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
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An additional 5cc of blood work will be drawn at the time that the intravascular catheter is inserted for contrast agent administration for the cardiac MRI scans. This blood will be used to identify serum biomarkers in myocardial fibrosis, and to validate the potential use for diagnostic purposes. No genetic testing will be done on these samples. The blood samples will be identified with the study ID number only, and will be stored in a secure freezer.
| At the end of the study, up to 10 years |
| Measure regional myocardial strain and correlate with presence of myocardial fibrosis | At the end of each MRI scan through study completion, up to 5 years. |
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| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |