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Gene Therapy

Gene Therapy for Cardiomyopathy in Friedreich's Ataxia

Phase 1
Recruiting
Led By Ronald G Crystal, MD
Research Sponsored by Weill Medical College of Cornell University
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
>600 GAA repeats in intron 1 in at least one allele
Left ventricle ejection fraction (EF) measured by cardiac MRI of ≥35% to 75%
Must not have
Known obstructive coronary artery disease
Individuals with uncontrolled diabetes (glycated hemoglobin, HbA1c levels >7%)
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 5 years
Awards & highlights
No Placebo-Only Group

Summary

This trial is testing a gene therapy to treat Friedreich's ataxia, a disease that affects the heart. The therapy uses a virus to deliver the gene. It will be given intravenously to 10 people to see if it is safe and effective.

Who is the study for?
Adults aged 18-50 with Friedreich's ataxia and related heart issues, who have a specific genetic marker (>600 GAA repeats), can join this trial. They must be able to undergo cardiac MRI, not be on immunosuppressants or other trials for 12 weeks prior, and use birth control if fertile. Exclusions include life-threatening conditions, uncontrolled diabetes or arrhythmias, low blood counts, past gene therapy participation, certain cancers within five years, severe heart failure or psychiatric disease.
What is being tested?
This phase IA study tests AAVrh.10hFXN gene therapy's safety and initial effectiveness in treating cardiomyopathy caused by Friedreich's ataxia. It involves an intravenous drug that delivers the FXN gene directly into patients' cells. The trial is open-label (patients know what they're getting) and gradually increases doses among ten participants to find the safest dose.
What are the potential side effects?
Potential side effects may include reactions related to immune response due to prednisone use such as increased infection risk; mood swings; increased appetite; swelling; high blood sugar levels; bone weakening with long-term use.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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My genetic test shows more than 600 GAA repeats in one allele.
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My heart's pumping ability is within the normal range.
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I have heart issues related to Fanconi anemia.
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I am between 18 and 50 years old.
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My FARS and SARA scores confirm I have Friedreich's ataxia.
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I have been diagnosed with Friedreich's ataxia based on my symptoms and genetic tests.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I have been diagnosed with blocked arteries in my heart.
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My diabetes is not under control (HbA1c > 7%).
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I am currently taking corticosteroids or other drugs that weaken my immune system.
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I use supplemental oxygen.
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I cannot undergo MRI scans with contrast due to health reasons.
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I have a health condition that may shorten my life to under a year.
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I haven't had any cancer in the last 5 years, except for basal cell skin cancer.
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I have severe heart failure that limits my daily activities.
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I have a FA missense mutation in my genes.
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I have a condition that causes thickening of my heart's walls.
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I have lung issues that could affect heart and lung tests.
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I have heart rhythm problems that need treatment.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~5 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and 5 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Safety of AAVrh.10hFXN
Other study objectives
Change in arrhythmias with 24-hour monitoring.
Change in cardiac-relevant parameters in cardiac-magnetic resonance scans
Change in cardiac-relevant parameters in echocardiograms
+1 more

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Trial Design

4Treatment groups
Experimental Treatment
Group I: Third Dose CohortExperimental Treatment2 Interventions
AAVrh.10hFXN will be administered intravenously.
Group II: Second Dose CohortExperimental Treatment2 Interventions
AAVrh.10hFXN will be administered intravenously.
Group III: Maximum Tolerated Dose CohortExperimental Treatment2 Interventions
AAVrh.10hFXN will be administered intravenously.
Group IV: First Dose CohortExperimental Treatment2 Interventions
AAVrh.10hFXN will be administered intravenously.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Prednisone
2014
Completed Phase 4
~2500

Find a Location

Who is running the clinical trial?

Weill Medical College of Cornell UniversityLead Sponsor
1,091 Previous Clinical Trials
1,154,721 Total Patients Enrolled
1 Trials studying Friedreich Ataxia
100 Patients Enrolled for Friedreich Ataxia
National Heart, Lung, and Blood Institute (NHLBI)NIH
3,943 Previous Clinical Trials
47,797,918 Total Patients Enrolled
1 Trials studying Friedreich Ataxia
80 Patients Enrolled for Friedreich Ataxia
Ronald G Crystal, MDPrincipal InvestigatorWeill Medical College of Cornell University
26 Previous Clinical Trials
6,012 Total Patients Enrolled
1 Trials studying Friedreich Ataxia
100 Patients Enrolled for Friedreich Ataxia

Media Library

AAVrh.10hFXN (Gene Therapy) Clinical Trial Eligibility Overview. Trial Name: NCT05302271 — Phase 1
Friedreich Ataxia Research Study Groups: Third Dose Cohort, Maximum Tolerated Dose Cohort, First Dose Cohort, Second Dose Cohort
Friedreich Ataxia Clinical Trial 2023: AAVrh.10hFXN Highlights & Side Effects. Trial Name: NCT05302271 — Phase 1
AAVrh.10hFXN (Gene Therapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT05302271 — Phase 1
~15 spots leftby Dec 2028
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