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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%

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 5 years

Awards & highlights

Study 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.Check my eligibility

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.See study design

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.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 5 years

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

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Safety of AAVrh.10hFXN

Other outcome measures

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

Trial Design

2Treatment groups

Experimental Treatment

Group I: Second Dose CohortExperimental Treatment2 Interventions

AAVrh.10hFXN will be administered intravenously.

Group II: 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

~2370

0 / 6Eligibility criteria met

Find a Location

Who is running the clinical trial?

Weill Medical College of Cornell UniversityLead Sponsor

1,054 Previous Clinical Trials

1,316,299 Total Patients Enrolled

1 Trials studying Friedreich Ataxia

100 Patients Enrolled for Friedreich Ataxia

National Heart, Lung, and Blood Institute (NHLBI)NIH

3,836 Previous Clinical Trials

47,850,847 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: 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

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Who can qualify to join this scientific experiment?

"Aspirants to this study should bear cardiac hypertrophy and be aged 18-40. The total number of applicants the project requires is 10 individuals."

Answered by AI

Does this research accept individuals aged 45 or older as participants?

"To partake in this medical trial, applicants must be between 18 and 40 years old. Separately, 44 studies are available to people younger than the age of consent while 235 trials involve patients over 65."

Answered by AI

What kind of risks would patients face if they received AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN?

"The safety of AAVrh.10hFXN, a rh.10 adeno-associated virus (AAV) gene transfer vector encoding human FXN cDNA, can be rated at 1 on our scale due to the limited evidence available from Phase 1 trials that support both its efficacy and security."

Answered by AI

Are there any opportunities to participate in this experiment at the present moment?

"Clinicaltrials.gov displays that this medical experiment is currently recruiting participants, with postings beginning on February 22nd 2022 and more recently updated on July 15th of the same year."

Answered by AI

How many individuals are enrolled in this experiment?

"Affirmative. Clinicaltrials.gov details that this research project, which was initially posted on February 22nd 2022, is actively searching for volunteers to participate. A total of 10 individuals need to be sourced from 1 medical facility."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

Phase IA Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia

2022. "Phase IA Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT05302271.

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