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New treatment option for Friedreich Ataxia
Official title Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
ClinicalTrials.gov ID: NCT05302271
What this study is testing
What is AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN?
AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN is an investigational medicine, given as an infusion into a vein, being studied as a potential treatment for friedreich ataxia.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- 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).
- Phase 1: an early, usually small safety study
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 12 to 50
You may be able to join if
- 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
You likely can't join if
- 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
- Decompensated heart failure (NY4A class III-IV at time of baseline clinical assessment)
- Hemoglobin \<10 g/dl
See the full eligibility 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 left ventricular mass index or abnormal...
- Adults: In the absence of other factors known to cause left ventricular hypertrophy, cardiac MRI left ventricular mass index \>2 standard deviations above the normal range (males \>84 gm/m2, females \>69 gm/m2 or...
- Cardiopulmonary arm crank testing with assessment of VO2 max ≤20 mL/kg-min, peak VO2 ≥10 mL/kg-min while maintaining revolutions of ≥40/min. To insure consistency of effort, peak RER ≥1.0
- Cardiac MRI stroke volume index \<45 mL/m2
- Cardiac MRI global longitudinal left ventricular strain \<20%
- Serum high-sensitivity cardiac troponin above the normal range
- Fibrosis ≤10% in the left ventricular wall on late gadolinium enhancement cardiac MRI
- Resting O2 saturation ≥95%
- Serum neutralizing anti-AAVrh.10 titer \<1:125
- Hematocrit \>30%
- White blood cell levels within normal limits
- Normal prothrombin, partial thromboplastin time
- Normal liver-related serum parameters (ALT, AST, ALP, bilirubin); normal liver ultrasound and serum alpha fetoprotein
- Normal kidney function as assessed by plasma urea and creatinine; estimated GFR \>30 mL/min/1.73m2
- No evidence of active infection of any types, including hepatitis virus (A, B or C), human immunodeficiency virus (HIV-1 and HIV-2), or SARS-CoV2
- Fertile individuals should utilize barrier birth control measures to prevent pregnancy for up to 6 months after vector administration
- Individuals not receiving experimental medications or participating in another experimental protocol for at least 12 wk prior to entry to the study (individuals who are/have received approved therapy will be included).
- Capable of undergoing cardiac MRI
- No contraindications to receiving corticosteroid immunosuppression
- 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
- Decompensated heart failure (NY4A class III-IV at time of baseline clinical assessment)
- Hemoglobin \<10 g/dl
- Absolute neutrophil count \<1500 cells/mm3
- Platelet count \<100,000 cells/mm3
- Hemodynamically unstable atrial or ventricular arrhythmias which require medical intervention
- Contraindication to cardiac MRI (e.g., non-MRI compatible pacemaker/defibrillator) or gadolinium (known or suspected hypersensitivity, glomerular filtration rate \<30 mL/min/1.73m2)
- Any malignancy during the last five years, except basal cell skin cancer
- Unrelated clinical condition with life expectancy \<12 months (prohibiting follow-up)
- Concomitant conditions (other than FA) known to produce left ventricular hypertrophy, including aortic stenosis, systemic hypertension (BP ≥140/90 on noninvasive blood pressure), or genetically mediated hypertrophic...
- Use of oxygen supplementation
- Risk for thromboembolic disease, including history of thromboembolic disease hospitalization within the last 90 days, recent trauma and/or recent surgical procedure. If the history of thromboembolic disease is not...
- Any uncontrolled psychiatric disease
- Pregnant or breastfeeding woman
- Prior participation in any gene and/or cell therapy
- Known obstructive coronary artery disease (as documented by clinical history of myocardial infarction, prior coronary revascularization or angina symptoms (Canadian Cardiovascular Society grade ≥2 at time of baseline...
- Any lung function abnormalities that would affect cardiopulmonary testing
- Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would...
- If prior infection with SARS-CoV2, any related residual cardiac or pulmonary abnormalities
- Alcoholism or drug addiction (see reference 71 for alcoholism, reference 72 for drug addiction)
The study team makes the final eligibility decision.
Where it's taking place
- New York, New York, United States
Compensation & support
A stipend or compensation may be offered.
Compensation mentioned.
ClinicalTrials.gov doesn't provide a reliable structured field for payment or travel support - confirm details with the study team.
Questions & answers
Do participants get paid in this trial?
This study's listing includes signals that participants may be compensated or receive a stipend. Amounts vary and are set by the study team - confirm the details with them.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 12 years to 50 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include New York, New York, United States. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.