Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial

Study Overview
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Brief Summary
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This trial intends to evaluate myocardial Fibrosis progression in Duchenne and Becker Muscular Dystrophy, as well the influence of ACE inhibitors in fibrosis progression. Additionally, this study aims to determine genetic predictors of cardiac involvement in these dystrophies.

Detailed Description
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Duchenne and Becker muscular dystrophies (DMD/BMD) are diseases characterized by progressive skeletal muscle degeneration and replacement by fibrofatty tissue. Data on cardiac involvement (defined as myocardial fibrosis), effect of ACE-inhibitors and specific genetic mutations on myocardial involvement detected by cardiac magnetic resonance (CMR) is lacking. The study will include 76 patients with DMD/BMD. All patients will be referred to two CMRs for assessment of ventricular function and myocardial fibrosis. Patients with myocardial fibrosis and normal left ventricle ejection fraction (LVEF) will be randomized into two groups, each group receiving ACE-inhibitor treatment or no treatment for cardiomyopathy. A genetic profile will be performed in every patient to identify possible mutations related to cardiac involvement.

Official Title
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Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy

Conditions
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Muscular Dystrophies, Myocardial Fibrosis

Intervention / Treatment
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* Drug: Enalapril


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with biopsy-proven Muscular Dystrophy of Duchenne or Becker Exclusion Criteria: Contraindications to cardiovascular magnetic resonance imaging

Ages Eligible for Study
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Minimum Age: 6 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: ACE inhibitor<br>ACE inhibitor (enalapril up to 20mg BID), in patients with preserved EF (LVEF grater than 50%) and with detectable delayed enhancement (myocardial fibrosis) in cardiac magnetic resonance, randomized to therapy or not. | Drug: Enalapril<br>* up to 20mg bid<br>|
| No Intervention: Control<br>Patients with preserved EF (LVEF grater than 50%) and with no detectable delayed enhancement (myocardial fibrosis) in cardiac magnetic resonance | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantitative Myocardial Fibrosis by CMR in patients with and without ACE inhibitor therapy | Progression of myocardial fibrosis | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Specific genetic mutations as predictors of cardiac involvement | Relation of dystrophin gene site mutations in exons <45 relation and the extent of myocardial fibrosis measured by cardiac magnetic resonance | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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cardiac magnetic resonance, myocardial fibrosis, muscular dystrophies