Positron emission tomography reveals increased myocardial glucose uptake in a subset of Friedreich ataxia patients

Payne, R.M., O’Connell, T.M., Pride, P.M. et al. Positron emission tomography reveals increased myocardial glucose uptake in a subset of Friedreich ataxia patients. Sci Rep 15, 37247 (2025). https://doi.org/10.1038/s41598-025-21330-w 

 In this cohort of FRDA patients, a PET scan identified two metabolically distinct subclasses of FRDA cardiomyopathy. FRDA patients with severe LVH had greater FDG uptake relative to palmitate utilization than FRDA patients without severe LVH. FRDA patients with severe LVH have systolic and diastolic dysfunction, as well as ongoing cardiac damage as indicated by cTnI leak. These findings suggest that FRDA patients with significant LVH may be at increased risk of complications from surgery or major illness.

Development of an AAV-Based Gene Therapy for the Ocular Phenotype of Friedreich’s Ataxia

Tang H, Gupte S, Xu E, Calabro KR, Friend H, Crosson SM, Fajardo D,Kostamo Z, Zhang H, Peterson JJ, Lin F, Kozmik Z, Lutz CM, Boye SL, Boye SE, Development of an AAV-Based Gene Therapy for the Ocular Phenotype of Friedreich’s Ataxia, Molecular Therapy (2025), doi:10.1016/j.ymthe.2025.10.048.

Gene supplementation via intravitreal injection of a novel AAV2-based capsid carrying FXN partially preserved retinal structure and/or function in both models, establishing proof-of-concept for this therapeutic strategy.