ACTION receives $910,000 Department of Defense award to study the evolving impact of therapies on heart disease in Duchenne muscular dystrophy
CINCINNATI, Ohio — The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) has received a $910,000 award through the Department of Defense Duchenne Muscular Dystrophy Research Program to support a three-year study focused on defining the contemporary natural history of cardiomyopathy in Duchenne muscular dystrophy (DMD) and evaluating the impact of emerging therapies on cardiac outcomes. The award will support the project, Defining the Contemporary Natural History and Therapeutics Impact on Cardiomyopathy in Duchenne Muscular Dystrophy, led by Chet Villa, MD, at Cincinnati Children’s Hospital Medical Center in collaboration with Emily Hayes, MD, at Nationwide Children’s Hospital.
Advanced Cardiac Therapies Improving Outcomes Network (ACTION) is an international learning health system dedicated to improving outcomes for children and adults with congenital and acquired heart disease who are at risk for heart failure. Headquartered within the Heart Institute at Cincinnati Children’s Hospital Medical Center, ACTION brings together clinicians, researchers, patients, families, industry partners, and advocacy organizations to accelerate discoveries and improve care. The ACTION Muscular Dystrophy collaborative (ACTION-MD) is focused on understanding and improving cardiac outcomes for individuals living with dystrophin-associated disorders.
Duchenne muscular dystrophy is a progressive genetic disorder caused by the absence of functional dystrophin protein. While advances in respiratory care and multidisciplinary management have improved survival, heart disease has emerged as the leading cause of death for individuals with DMD. At the same time, new skeletal muscle therapies, including gene therapies and exon-skipping treatments, are transforming the treatment landscape. Despite these advancements, important questions remain about how these therapies affect the heart over time and how best to manage cardiomyopathy throughout a patient’s life.
The Department of Defense-funded project will leverage ACTION-MD, one of the largest prospective cardiac registries for individuals with DMD. The study will build upon a network that has already enrolled more than 1,300 patients across the age spectrum. Researchers will use real-world, longitudinal data to better understand how DMD-associated cardiomyopathy progresses and how current therapies influence cardiac outcomes.
The project will focus on three primary objectives:
- Defining the contemporary natural history of DMD-associated cardiomyopathy across the lifespan
- Evaluating the impact of novel skeletal muscle therapies on cardiac function and disease progression
- Assessing the outcomes associated with advanced cardiac therapies, including implantable cardioverter-defibrillators (ICDs), ventricular assist devices (VADs), and heart transplantation
The study also seeks to expand participation beyond traditional ACTION-MD centers through electronic enrollment tools and partnerships with advocacy organizations, helping researchers better capture real-world experiences from patients receiving care in a variety of settings, including adult programs.
This award builds upon the foundation established through previous support for ACTION-MD and will provide critical resources to continue long-term follow-up of patients with DMD while examining the impact of rapidly evolving therapies. The project will also strengthen data-sharing infrastructure, support collaboration among researchers and clinical centers, and facilitate dissemination of findings to patients, families, clinicians, and the broader dystrophinopathy community.
By improving our understanding of how both cardiac and skeletal muscle therapies influence heart health in DMD, this work will help inform future clinical guidelines, support the design of cardiac clinical trials, and provide valuable information to patients and families navigating complex treatment decisions. Ultimately, the goal is to improve both the quality and length of life for individuals living with Duchenne muscular dystrophy.
