Phase 1 gene therapy shows early activity in Friedreich's ataxia cardiomyopathy
Phase 1 data in 17 adults with Friedreich's ataxia cardiomyopathy showed AAVrh.10hFXN (LX2006) was generally well tolerated and showed signs of biological activity. The gene therapy is being advanced into a larger trial.
A first-in-human gene therapy trial may offer new hope for patients with Friedreich's ataxia associated cardiomyopathy, in which cardiomyopathy is the leading cause of death. Phase 1 data in 17 adult patients suggest an experimental treatment could slow or even halt the cardiac decline that proves fatal for most patients, and there are no current treatments for FA cardiomyopathy.
The investigational gene therapy, AAVrh.10hFXN (LX2006), is designed to deliver a functional copy of the frataxin gene directly into heart cells using a viral vector. Frataxin plays a key role in mitochondrial energy production, and its absence leads to progressive cardiac stress, hypertrophy and eventual heart failure.
The phase 1 study enrolled 17 adult patients with FA-associated cardiomyopathy who received a single intravenous infusion of the therapy across three dose levels. The treatment was generally well tolerated and showed signs of biological activity.
The therapy also appeared to stabilize neurological function, as measured by the modified Friedreich’s Ataxia Rating Scale (mFARS), although the study was primarily focused on cardiac outcomes.
The findings represent the first clinical demonstration of gene therapy targeting the cardiac manifestations of FA. Based on these early results, the therapy’s developer, Lexeo Therapeutics, is preparing to advance the program into a larger trial aimed at securing regulatory approval.