Actively Recruiting
Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
Led by Weill Medical College of Cornell University · Updated on 2026-03-31
25
Participants Needed
1
Research Sites
409 weeks
Total Duration
On this page
Sponsors
W
Weill Medical College of Cornell University
Lead Sponsor
N
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males and females aged 12 to 50 years
- Willing and able to provide informed consent
- Definitive diagnosis of Friedreich's ataxia based on clinical phenotype and genotype with GAA expansion on both alleles
- More than 600 GAA repeats in intron 1 in at least one allele
- Friedreich Ataxia Rating Scale (FARS) and Scale for the Assessment and Rating of Ataxia (SARA) scores consistent with diagnosis
- Left ventricle ejection fraction between 35% and 75% measured by cardiac MRI
- Evidence of FA-related cardiac disease with at least two abnormal parameters including abnormal cardiac MRI left ventricular mass index or cardiopulmonary exercise test
- Fibrosis less than or equal to 10% in the left ventricular wall on cardiac MRI
- Resting oxygen saturation of at least 95%
- Serum neutralizing anti-AAVrh.10 titer less than 1:125
- Hematocrit greater than 30%
- White blood cell counts within normal limits
- Normal prothrombin and partial thromboplastin time
- Normal liver serum parameters and ultrasound
- Normal kidney function with estimated glomerular filtration rate above 30 mL/min/1.73m2
- No active infection including hepatitis A, B, or C, HIV-1 or HIV-2, or SARS-CoV2
- Fertile individuals agree to use barrier birth control for six months after treatment
- Not receiving experimental medications or participating in other experimental protocols for at least 12 weeks before study entry
- Capable of undergoing cardiac MRI
- No contraindications to corticosteroid immunosuppression
You will not qualify if you...
- Currently receiving corticosteroids or other immunosuppressive medications
- Uncontrolled diabetes with HbA1c levels above 7%
- Friedreich's ataxia missense mutation on one or both alleles
- Evidence of infection such as elevated white blood cell count, fever above 38.5°C, or chest x-ray infiltrate
- Decompensated heart failure (NY4A class III-IV)
- Hemoglobin less than 10 g/dl
- Absolute neutrophil count less than 1500 cells/mm3
- Platelet count less than 100,000 cells/mm3
- Unstable atrial or ventricular arrhythmias requiring medical intervention
- Contraindications to cardiac MRI or gadolinium contrast
- Any malignancy in the last five years except basal cell skin cancer
- Clinical conditions with life expectancy less than 12 months
- Other conditions causing left ventricular hypertrophy besides FA
- Use of oxygen supplementation
- Risk factors for thromboembolic disease including recent hospitalization, trauma, or surgery
- Uncontrolled psychiatric disease
- Pregnant or breastfeeding women
- Prior participation in gene or cell therapy
- Known obstructive coronary artery disease
- Lung function abnormalities affecting exercise testing
- Any condition or abnormal lab findings that could interfere with study participation or data interpretation
- Residual cardiac or pulmonary abnormalities after COVID-19 infection
- Alcoholism or drug addiction as defined in references 71 and 72
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Weill Cornell Medicine
New York, New York, United States, 10021
Actively Recruiting
Research Team
M
Maddie Galbraith, BS
CONTACT
N
Niamh Savage, BS
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
4
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