Weill Medical College of Cornell University
The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). AAVrh.10hFXN is a serotype rh.10 adeno-associated virus gene transfer vector coding for Frataxin (FXN). The drug is administered intravenously. This is a phase 1, open label, dose escalation study with a total of 25 participants.
Inclusion Criteria: * Males and females, age 12 to 50 * Willing and able to provide informed consent * Definitive diagnosis of FA, based on clinical phenotype and genotype (GAA expansion on both alleles) * \>600 GAA repeats in intron 1 in at least one allele * FARS and SARA neurologic scores consistent with diagnosis of Friedreich's ataxia * Left ventricle ejection fraction (EF) measured by cardiac MRI of ≥35% to 75% * Evidence of FA-related cardiac disease that falls into one of the 2 categories: Early disease (defined by serum high sensitivity troponin above the normal range, without increa…
AAVrh.10hFXN will be administered intravenously.
All participants will remain immunosuppression therapy with prednisone for a total of 14 weeks.
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