A new phase 1 clinical trial testing a gene therapy to treat cardiomyopathy associated with Friedreich ataxia (FA) is now recruiting participants in the United States.

The open-label, dose-escalation trial aims to test the safety and preliminary efficacy of AAVrh.10hFXN, an adeno-associated virus carrying the frataxin (FXN) gene. 

Read more about the symptoms of FA

A total of 10 participants with FA, who are 18 to 50 years of age, will be given 1 of 2 doses of the treatment intravenously.

The primary outcome measure will be the number of participants with treatment-related adverse events for 5 years.

Secondary outcome measures will be changes in cardiopulmonary exercise testing, cardiac-relevant parameters in cardiac-magnetic resonance scans, cardiac-relevant parameters in echocardiograms, and arrhythmias with 24-hour monitoring. 

The trial, which will take place at Weill Cornell Medicine in New York, New York, is expected to be completed on December 31, 2029.

People being treated with corticosteroids or other immunosuppressants, those with uncontrolled diabetes, evidence of infection, any malignancy during the last 5 years, decompensated heart failure, and uncontrolled psychiatric diseases are not eligible to participate in the study. 

Also, pregnant or breastfeeding women, patients who have participated in any previous gene or cell therapy trial, those with SARS-CoV2 infection-related residual cardiac or pulmonary abnormalities, and those with alcohol or drug addiction are not eligible.

FA is an autosomal-recessive disease caused by a loss-of-function mutation in the FXN gene. The mutation reduces the levels of FXN protein, which controls ATP synthesis and iron homeostasis in the mitochondria.

The main symptom of the disease is progressive limb ataxia during ambulation. Around half of patients also develop hypertrophic cardiomyopathy, which can be fatal if left untreated.

AAVrh.10hFXN is a gene transfer vector that uses adeno-associated virus serotype rh.10 to deliver the healthy version of the human FXN gene into heart cells.


Phase IA study of AAVrh.10hFXN gene therapy for the cardiomyopathy of Friedreich’s ataxia. US National Library of Medicine. Updated August 1, 2023. Accessed August 16, 2023.