Monday, June 30, 2025 – The Muscular Dystrophy Association (MDA) and Friedreich’s Ataxia Research Alliance (FARA) today announced a new $300,000 collaborative research grant to investigate the causes and progression of cardiac fibrosis in Friedreich’s ataxia (FA), a life-limiting complication of the rare neuromuscular disease.
The grant has been awarded to principal investigators Giovanni Manfredi, MD, PhD, of Weill Cornell Medicine, and R. Mark Payne, MD, of Indiana University School of Medicine, along with co-investigator Anna Stepanova, PhD, of Weill Cornell Medicine. Their project, titled Molecular and Cellular Mechanisms of Cardiac Fibrosis in Friedreich Ataxia, aims to identify early drivers of cardiac damage and scarring to uncover new therapeutic pathways.
“Cardiac complications remains one of the most urgent and life-limiting aspects of Friedreich’s ataxia, yet our understanding of how fibrosis develops, and progresses, is still incomplete,” said Angela Lek, PhD, interim Chief Research Officer, MDA. “This grant reflects our strategic priority to support research that addresses the full impact of FA, including its most devastating manifestations in the heart. By better understanding the mechanisms that drive fibrosis, we move closer to meaningful therapeutic interventions for people living with this disease.”
FA is a genetic, progressive neuromuscular disorder caused by a deficiency in frataxin, a mitochondrial protein. While often characterized by neurological symptoms, FA also poses severe cardiac risks. One of the most dangerous outcomes is myocardial fibrosis, a buildup of scar tissue in the heart that impairs its ability to pump effectively, often resulting in heart failure and arrhythmias.
“This collaboration highlights our alignment and commitment to tackling the toughest challenges facing the FA community,” said Jennifer Farmer, Chief Executive Officer of FARA. “Understanding the drivers of cardiac fibrosis is essential not just for prolonging life, but for improving quality of life for individuals with FA. We’re proud to support work that seeks to translate basic science into tangible outcomes for people living with FA.”
The study will explore specific cell types involved in fibrosis, particularly cardiac fibroblasts, and molecular signaling pathways that contribute to the scarring process. Using well-established FA mouse models, the team will work to pinpoint both damaging and compensatory mechanisms activated during cardiomyopathy, with the goal of identifying measurable biomarkers and therapeutic targets to slow or reverse disease progression.
From the Researchers
“Our goal is to understand the cascade of molecular and cellular events that lead to fibrosis in the FA heart,” said Dr. Manfredi. “By identifying the early triggers of cardiomyocyte injury and fibrotic remodeling, we hope to inform the development of strategies that can intercept the disease process before irreversible damage occurs.”
“Cardiac complications in FA are often underappreciated until they become severe,” added Dr. Payne. “This funding allows us to focus on the fundamental biology that drives these cardiac changes and to explore how we can leverage that knowledge to develop more effective treatments.”
“We’re taking a highly integrative approach, combining cellular models, animal studies, and molecular analyses to map out how fibrosis unfolds in the FA heart,” said Dr. Stepanova. “This could ultimately help us pinpoint biomarkers and therapeutic targets that are both measurable and modifiable.”
This grant builds upon a longstanding collaboration between MDA and FARA to fund high-impact studies and accelerate breakthroughs for people living with Friedreich’s ataxia. Read about previous joint grants here.
“As someone with two sons living with FA, I’ve come to understand that the heart issues can be just as difficult, if not more so, than the mobility challenges,” said Tom Henry, an MDA family member. “Knowing that researchers are zeroing in on the cause of cardiac fibrosis gives me real hope that treatments are on the horizon that could change our futures.”
Even in a challenging funding environment, the commitment of MDA and FARA supporters keeps science moving forward. Thanks to this community’s fundraising efforts, we’re advancing groundbreaking research and care for families living with neuromuscular diseases, progress that wouldn’t be possible without them.
MDA has invested more than $20 million in FA research since its inception. MDA is proud to support this grant with funding from its Art and Soul benefit presented by Schnucks, an event dedicated to finding a cure for Friedreich’s ataxia.
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About FARA
The Friedreich’s Ataxia Research Alliance (FARA) is a nonprofit organization committed to the pursuit of scientific research leading to treatments and a cure for Friedreich’s ataxia. FARA’s mission is to marshal and focus the resources and relationships needed to cure FA by raising funds for research, promoting public awareness, and aligning scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA. To learn more visit curefa.org and follow FARA on Instagram, Facebook, X, LinkedIn, and YouTube.
About Muscular Dystrophy Association
Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and over 300 other neuromuscular conditions. For 75 years, MDA has led the way in accelerating research, advancing care, and advocating support and inclusion of families living with neuromuscular disease. MDA’s mission is to empower the people we serve to live longer, more independent lives. To learn more visit mda.org and follow MDA on Instagram, Facebook, X, Threads, Bluesky, TikTok, LinkedIn, and YouTube.