Study Overview:

The investigational gene therapy involves a single, intravenous administration of a modified adeno-associated virus that delivers the normal FXN gene to the heart (and other organs). The goal of this initial clinical study is to assess safety and initial estimates of efficacy in treating heart disease.

Anyone considering participating in a clinical trial should discuss the matter with their physician. FARA does not endorse or recommend any particular studies.

Study Details:

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 10 participants.

Participation in this study requires an overnight stay at The New York Presbyterian Hospital/Weill Cornell Medicine for observation after administration of the study drug, followed by a one week stay at the Hemsley Hotel on the Weill Cornell Medical campus. Participants will then be assessed periodically over 5 years including 4 visits to the study site at Weill Cornell Medical campus at 1, 3, 6, and 12 months following administration of the study drug.

This clinical trial is funded by the National Heart, Lung, and Blood Institute at no cost to participants including travel and accommodation expenses.

Key Inclusion Criteria:

  • Males and females, age 18 to 50
  • Definitive diagnosis of FA, based on clinical phenotype and genotype (homozygous GAA repeat expansion, with >600 repeats in at least one allele)
  • Left ventricle ejection fraction (EF) measured by cardiac MRI of >/=35% to 75%
  • In the absence of other factors known to cause left ventricular hypertrophy (LVH), left ventricular mass index on cardiac MRI >2 standard deviations above the normal range
  • Stroke volume index (<45 mL/m2) and/or global longitudinal left ventricular strain (<20%) on cardiac MRI
  • </=10% fibrosis in the left ventricular wall on late gadolinium enhancement cardiac MRI
  • Serum neutralizing anti-AAVrh.10 titer <1:125
  • Capable of undergoing cardiac MRI
  • No contraindications to receiving corticosteroid immunosuppression

Key Exclusion Criteria:

  • Individuals receiving corticosteroids or other immunosuppressive medications
  • Individuals with uncontrolled diabetes (glycated hemoglobin, HbA1c levels >7%)
  • Genotype FA missense mutation on one or both alleles
  • Contraindication to cardiac MRI (e.g., non-MRI compatible pacemaker/defibrillator) or gadolinium
  • Any malignancy during the last five years, except basal cell skin cancer
  • Prior participation in any gene and/or cell therapy 

Additional inclusion and exclusion criteria may apply and will be evaluated by a study doctor.

Length of Study Commitment:

5 years

Participating Study Locations

Institution Name and LocationInvestigatorStudy Coordinator Contact InformationStatus

Weill Cornell Medicine
New York, New York

Ronald G. Crystal, MD

Maddie Galbraith, BS


Explore the FA Drug Development Pipeline

FARA believes that there are many different approaches to treating Friedreich’s ataxia, and that it will require a cocktail approach of two or more treatments to slow, stop, reverse, and cure FA. Learn more about the approach behind this potential treatment and explore the other approaches that are in the FA Drug Development pipeline.