AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia

Is gene therapy with an adenoassociated virus (AAV) coding for human frataxin a safe and preliminary effective therapy for the cardiomyopathy that characterizes Friedreich ataxia?In an open-label, dose-ranging, nonrandomized clinical trial of 17 patients, intravenous administration of AAVrh.10hFXN was associated with minimal toxic effects, reduced cardiac magnetic resonance imaging assessment of left ventricular mass index, and reduced serum high-sensitivity troponin I level.The findings suggest that AAVrh.10hFXN gene therapy is safe, and additional trials are needed to evaluate efficacy for Friedreich ataxia.

Corresponding Author: Ronald G. Crystal, MD, Department of Genetic Medicine, Weill Cornell Medical College, 1300 York Ave, Box 164, New York, NY 10065 (geneticmedicine@med.cornell.edu).

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