New AAV gene therapy shows promise for treating nerve and heart defects in Friedreich’s ataxia

February 3, 2026-Researchers have developed a novel AAV-based gene therapy that may simultaneously correct nerve and heart problems in Friedreich’s ataxia (FA). The one-time treatment, delivered via spinal tap, uses AAV vectors to boost frataxin, the protein deficient in FA, restoring function in both the nervous system and heart in animal models. In mice, the AAV therapy nearly fully rescued motor deficits and extended lifespan, while in primates, frataxin levels increased safely without exceeding toxicity thresholds.

This approach relies on engineered cross-correction, where cells transduced by AAV produce and secrete frataxin for uptake by neighboring cells, effectively turning treated cells into frataxin “factories.” Administered into cerebrospinal fluid, the AAV vectors reach the nervous system and leak into the bloodstream to target heart muscle cells.

Previous gene therapy candidates generally targeted either neurons or cardiac cells, but this AAV-FXN therapy addresses both tissues simultaneously. In mouse models lacking frataxin in nerve or muscle cells, treatment with AAV delivering secretable frataxin improved motor coordination, survival, and heart function—effects not seen with conventional AAVs carrying the standard FXN gene.

In primates, analysis confirmed AAV distribution to the dentate nucleus, dorsal root ganglia, and multiple heart regions. Frataxin increases remained below a toxic threshold, with mitochondrial processing correctly producing mature protein. Researchers note that even modest frataxin elevation can restore neuronal and cardiac function in FA.

The study, titled “Development of a secretable frataxin for enhanced efficacy in treating Friedreich’s Ataxia,” was published in Molecular Therapy Advances.

“Our AAV-based Engineered Cross-Correction paradigm provides broad, precise, and scalable therapeutic delivery,” the team concluded, highlighting its potential to improve quality of life and life expectancy in FA patients.