Heart failure & cardiomyopathies
AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial
An erratum to this article was published (JAMA Cardiol, 1 Aug 2026 ↗)
Authors' conclusion
Findings of this nonrandomized clinical trial suggest that intravenous administration of AAVrh.10hFXN was well tolerated and may be a potential treatment for FA cardiomyopathy, as evidenced by preliminary improvement in exploratory efficacy end points.
Study context
- Population
- Adults with Friedreich ataxia cardiomyopathy
- Participants
- 17 adults
- Comparison
- AAVrh.10hFXN gene therapy in 3 dose cohorts
- Outcome
- Safety
Methodological detailspooled analysis of 2 dose-escalation trials, open-label, pooled data of 2 independent trials, academic medical centres
- Pooled analysis of 2 dose-escalation trials
- Open-label
- Pooled data of 2 independent trials
- Academic medical centres
Pooled result
As reported in the abstract
mean (SD) follow-up 20 (8) months
Serious adverse events, all resolved
4
SAEs possibly related to prednisone immunosuppression
3
Possibly vector-related myocarditis 12 months after therapy
1
Further pooled results
| Outcome | Cohort 1 | Cohort 2 | Cohort 3 |
|---|---|---|---|
| Cardiac FXN protein on biopsy (exploratory; 8 patients) · 3 months after therapy | 20% | 81% | 123% |
- Cardiac frataxin (FXN) protein on biopsy (exploratory; 8 patients) — Higher cardiac FXN in all patients with biopsy
- 8
CMR-derived LV mass index (exploratory) · after therapy
- Left ventricular mass index (LVMI) lower by ≥10%
- 9
- LVMI stabilised
- 8
Serum hs troponin I (exploratory) · after therapy
- Lower by ≥10%
- 15
- Higher by ≥10%
- 2
- Excluding the patient with myocarditis
Safety
- Serious adverse events, all resolved
- 4
- Possibly vector-related myocarditis
- 1
Original publication
AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial. JAMA Cardiol. Published 1 August 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →