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Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry
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DOI：10.1016/j.nmd.2025.106278.png)
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Abstract
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The Advanced Cardiac Therapies Improving Outcomes Network formed a dystrophinopathy registry to define cardiac diagnostics, management, and advanced therapies in the current era. Males with dystrophinopathy and one of the following: age ≥10 years, cardiomyopathy, or receipt of gene therapy, were eligible for enrollment. Data collection occurred at enrollment and every 6 months thereafter and includes demographics, neuromuscular, cardiac, and pulmonary endpoints, medications, advanced cardiac therapies, and outcomes. This analysis is of the first 500 males with a mean age of 18.1 years (±5.38 years), the majority being white (81.2%) with Duchenne Muscular Dystrophy (91.4%), on glucocorticoids (80.2%), non-ambulatory (67.2%), and not requiring respiratory support (54.0%). In this cohort, 58.8% had evidence of cardiac involvement, 54.6% with evidence of ventricular dysfunction. The majority were on cardiac medication: 458 (91.6%) on angiotensin converting enzyme inhibitor or equivalent, 346 (69.2%) on mineralocorticoid receptor antagonist, and 264 (52.8%) on beta-blocker. One-hundred thirteen (22.6%) had an arrhythmia, 8 (1.6%) an implantable cardioverter defibrillator, 6 (1.2%) a ventricular assist device, and 3 (0.6%) underwent heart transplantation. Longitudinal data collection will establish a modern natural history of cardiomyopathy in dystrophinopathy, providing critical information to inform cardiac management and clinical trials.
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