Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
Trial statusRecruiting
Trial phasePhase 1
Trial typeInterventional
Biological sexAll
Age12-50
SponsorWeill Medical College of Cornell University
About this trial
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 criteria
Qualifiers
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
Disqualifiers
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
Evidence of infection defined by elevated white blood cell count, temperature >38.5̊ C, infiltrate on chest x-ray
Trial design
Treatments tested in this trial
- AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN
- Prednisone
Treatment groups
25 Participants
are divided into 4 treatment groupsSponsors and collaborators
Weill Medical College of Cornell University
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Collaborator
Source ClinicalTrials.gov