IT DOES LOOK LIKE BETWEEN ELON AND CHINA BY THE END OF 2026 BLIND AND DEAF WILL BE A THING OF THE PAST: AAV gene therapy for autosomal recessive deafness 9: a single-arm trial | Nature Medicine

Qwen SUMMARY:

The study published in Nature Medicine evaluates the safety and efficacy of adeno-associated virus (AAV)-mediated OTOF gene therapy using the Anc80L65 capsid in ten participants aged 1.5 to 23.9 years with autosomal recessive deafness 9 (DFNB9). Conducted across five sites in China, this single-arm trial primarily assessed safety and tolerability over five years, with secondary endpoints measuring auditory function improvements.

Key Findings:

  • Safety : The therapy was well tolerated, with 162 grade I/II adverse events reported. Decreased neutrophil percentage was the most common event.

  • Hearing Improvement : All participants showed significant improvement in hearing thresholds. On average, pure-tone-average hearing levels improved from 106 ± 9 dB at baseline to 52 ± 30 dB after 6–12 months post-treatment. Similar improvements were observed in other auditory measures including click auditory brainstem response (ABR), tone-burst ABR, and auditory steady-state response (ASSR).

  • Timecourse of Effect : Hearing improvements occurred rapidly, with most gains achieved within one month post-injection.

  • Predictive Value : Click and tone-burst ABR thresholds reliably predicted behavioral pure-tone-average thresholds after four months, unlike ASSR thresholds.

  • Age Dependency : Optimal outcomes were seen in children aged 5–8 years.

Additional Information:

  • The trial remains ongoing, requiring long-term follow-up to confirm sustained safety and efficacy.

  • Data availability is restricted due to ethical and legal considerations but de-identified patient data are included in the paper.

  • The study was supported by multiple grants and partially funded by Otovia Therapeutics Inc., which had involvement in study design and publication decisions.

This preliminary evidence suggests that AAV-OTOF gene therapy is safe and leads to meaningful hearing recovery in DFNB9 patients across a wide age range, with particularly strong outcomes in early childhood.