Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
Weill Medical College of Cornell University
Summary
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.
Eligibility
- Age range
- 12–50 years
- Sex
- All
- Healthy volunteers
- No
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, must meet the following criteria: must be abnormal in ≥2 of the following parameters, at least one of which is an abnormal cardiac MRI l…
Interventions
- BiologicalAAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN
AAVrh.10hFXN will be administered intravenously.
- DrugPrednisone
All participants will remain immunosuppression therapy with prednisone for a total of 14 weeks.
Location
- Weill Cornell MedicineNew York, New York