Publications

Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry

Abstract

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.

This ACTION study was online ahead of print in Neuromuscular Disorders on November 8, 2025. Congratulations to the authors:

  • Emily A. Hayes
  • Chet R. Villa
  • Benjamin Kroslowitz
  • Deipanjan Nandi
  • Linda Cripe
  • Jonathan H. Soslow
  • Deepa Mokshagundam
  • Renata Shih
  • Bethany Wisotzkey
  • John J. Parent
  • Tyler Cunningham
  • Jennifer Conway
  • Paul Esteso
  • Brian F. Birnbaum
  • Svetlana B. Shugh
  • Frank J. Raucci
  • Beth D. Kaufman
  • Nelia Soares
  • Sonya Kirmani
  • Hugo R. Martinez
  • Katheryn Gambetta
  • Ashwin K. Lal
  • Carol A. Wittlieb-Weber
CITATION

Emily A. Hayes, et al. Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry, Neuromuscular Disorders (2025), doi: https://doi.org/10.1016/j.nmd.2025.106278
ACTION Publications