Like many physician-scientists, Ronald Payne, MD, pediatric cardiologist at Riley Children’s Health and professor of pediatrics at Indiana University School of Medicine, works tirelessly to ensure patients are receiving the breakthrough treatments they need to survive. When it comes to children with Friedreich’s ataxia, that effort is no different.
Driven by his expertise in mitochondrial biology, Dr. Payne is at the forefront of a major research study to investigate Friedreich’s ataxia, a rare genetic disorder characterized by the loss of the frataxin protein in mitochondria. Recognizing the urgent need for therapeutic interventions, Dr. Payne’s research analyzes the potential of restoring frataxin protein levels to mitigate Friedreich’s ataxia altogether.
“During my postdoctoral training at Washington University School of Medicine in St. Louis, my research revolved around how mitochondria make energy and regulate the cell,” Dr. Payne said. “As part of this, I studied how proteins get imported into mitochondria, which later became the key to my connection with Friedreich’s ataxia.”
In collaboration with a nonprofit research and patient advocacy group called Friedreich’s Ataxia Research Alliance (FARA), Dr. Payne’s work is largely supported by scientists worldwide and funded by a generous grant program. Under FARA’s partnership to date, Dr. Payne has conducted trailblazing experiments to test his hypothesis firsthand, eventually leading to the development of a novel drug candidate named CTI-1601.
“The support I’ve received has helped advance the drug to the point of clinical trials and becoming a commercial reality, a milestone that very few physicians have been able to reach,” Dr. Payne added.
Following the drug’s promising results, Dr. Payne established Chondrial Therapeutics, LLC in 2012–later rebranded as Larimar Therapeutics in 2018–with the goal of bringing CTI-1601 to patients. Through strategic partnerships and successful fundraising efforts, the startup has allowed Dr. Payne to manufacture the drug and continue evaluating its outcomes over time.
“When we began to develop the company, we successfully obtained a Therapeutics for Rare and Neglected Diseases program grant from the National Center for Advancing Translational Sciences,” Dr. Payne said. “That’s a special award that only about 5% of applications secure, and the program helped me tremendously move ahead in obtaining adequate funding in a consistent and steady pattern.”
Earlier this year, CTI-1601 revealed positive results from its Phase 2 clinical trial, signifying a major milestone for treating Friedreich’s ataxia. Looking ahead, a longer-term, Phase 2 clinical trial is underway to analyze the drug’s dosage levels. Next steps will also involve approval by the U.S. Food and Drug Administration (FDA).
“By the time the drug gets into actual clinical use, another treatment may pop up,” Dr. Payne said. “But just to be able to tell patients what we’re working on offers them hope and reminds them that they’re not alone. Somebody’s trying to help them, and that person has had an incredible community of support behind him along the way.”
Beyond this work, Dr. Payne remains engaged in other research endeavors, including one in partnership with Weinian Shou, PhD, professor of pediatrics at IU School of Medicine. Together, they are focused on developing a combination therapy targeting both neurological and cardiac complications of Friedreich’s ataxia. Similarly, Dr. Payne is involved in a SAXOPHONE study, aimed to explore the safety and efficacy of apixaban to treat thrombosis in children.
Leading pediatric heart care
The Riley Heart Center delivers expert diagnosis and treatment to manage any simple to complex heart condition. With a team of multidisciplinary specialists, program distinctions include:
- National leader in patient outcomes with mortality rates below the benchmark
- Only comprehensive adult congenital heart disease program in Indiana; accredited by the Adult Congenital Heart Association
- Integrated care model with subspecialty care coordination and novel approaches to cardiac intensive care, inpatient navigation and home monitoring