An experimental gene therapy has demonstrated safety in reducing heart muscle damage in Friedreich ataxia (FA) patients, according to a recent early-stage trial involving 17 adults. FA, an inherited disorder linked to defects in the frataxin (FXN) gene, leads to substantial nerve and heart deterioration, primarily resulting in cardiomyopathy, the disease's major mortality factor.
The trial combined two dose-escalation studies using the vector AAVrh.10hFXN. Participants received a single intravenous dose, which led to improved cardiac frataxin levels in patients. Notably, left ventricular mass index (LVMI) decreased by at least 10% in nine participants, suggesting potential benefits from the treatment.
Researchers emphasized that while initial results are promising, the study's limited size necessitates further investigation through larger, controlled trials to determine long-term efficacy and safety.