Background: Friedreich ataxia (FA) is a rare, multisystem disorder caused by a pathogenic variant in the FXN gene, leading to decreased frataxin production.FA impacts about 15,000 individuals worldwide. Symptom onset typically presents in childhood into adolescence, and mean life expectancy is 35 to 40 years, with heart-related issues being the main cause of death in up to 80% of individuals with FA. Despite these outcomes, heart health is not adequately explained to some patients, and discussions of heart health remain an unmet need for many individuals with FA. Lexeo Therapeutics has formed a global FA Cardiac Advisory Council of individuals and caregivers of individuals living with FA cardiomyopathy (FA-CM). The purpose of this council is to share their lived experiences with FA-CM and become long-term strategic partners of Lexeo. The council will provide ongoing guidance and will help foster collaborations that empower the FA community to address gaps in cardiac care, incl. advocating for multidisciplinary care that elevates the role of cardiologists.
Methods: The FA Cardiac Advisory Council meeting aimed to understand crucial gaps and shared goals related to heart health, entry points in cardiac care and diagnostic challenges. A pre-meeting survey was completed by 10 council members.
Results: Survey results indicated that at the time of diagnosis, 9 of 12 individuals had cardiac symptoms; however, the diagnosing physician discussed the impact of FA on the heart at diagnosis in only 6 of 12 individuals. The council identified key unmet needs related to the timing and content of cardiac information, its suitability for young people and their caregivers, and the type of information they wished they had received earlier in the diagnostic process. Age-appropriate health information was often lacking, and council members frequently turned to the internet to find information that was difficult to interpret. There was consensus that heart health in FA is not adequately explained or discussed at the time of diagnosis.
Conclusions: The FA Cardiac Advisory Council identified key collaborative opportunities to increase knowledge around FA-CM and improve cardiac care by: sharing insights and stories on their lived experiences with FA-CM, developing materials to better inform newly diagnosed individuals with FA, building a community for those impacted by FA-CM via digital and social media channels, and providing on clinical trial experience.