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| ID | Type | Description | Link |
|---|---|---|---|
| 1R01HL131975-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| Children's Hospital of Orange County | OTHER |
| National Heart, Lung, and Blood Institute (NHLBI) | NIH |
| University of California, Los Angeles |
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This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.
Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.
Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.
The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1a | Experimental | Group 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County. |
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| Group 1b | Experimental | Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test. A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County. |
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| Group 2 | Experimental | Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months. |
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| Group 3 | Experimental | Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Cardiac MRI with contrast | Other | Cardiac MRI |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Myocardial Tissue Characterization | Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility | 6 months |
| Myocardial Functional Characterization | Strain imaging and rotational mechanics | 6 months |
| Genomic Analysis | Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis | 4 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Daniel Ennis, PhD | Stanford University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, Los Angeles | Los Angeles | California | 90024 | United States | ||
| Children's Hospital of Orange County |
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| OTHER |
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| Cardiac MRI without contrast |
| Other |
Cardiac MRI |
|
| Blood Test | Other | Hematocrit, Creatinine, Troponin, BNP |
|
| Heart Rate | Other | Holter Monitor |
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| Pulmonary Function Test | Other | Pulmonary Function Test |
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| Genetic Testing | Other | Genetic Testing |
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| Repeat MRI scan | Other | Repeat MRI scan |
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| Orange |
| California |
| 92868 |
| United States |
| Stanford University | Stanford | California | 94305 | United States |
| 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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| ID | Term |
|---|---|
| D003287 | Contrast Media |
| D006403 | Hematologic Tests |
| D006339 | Heart Rate |
| D012143 | Respiratory Physiological Phenomena |
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D064907 | Diagnostic Uses of Chemicals |
| D020228 | Pharmacologic Actions |
| D020164 | Chemical Actions and Uses |
| D020313 | Specialty Uses of Chemicals |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D055986 | Vital Signs |
| D010808 | Physical Examination |
| D006439 | Hemodynamics |
| D002320 | Cardiovascular Physiological Phenomena |
| D002943 | Circulatory and Respiratory Physiological Phenomena |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
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