Audiological characteristics following gene therapy in patients with autosomal recessive deafness 9

作者：Longlong Zhang, Dingding Dong, Yanbo Yin, Honghai Tang, LV Jun, Qi Cao, Wuqing Wang, Bing Chen, Yunfeng Wang, Huawei Li, Daqi Wang, Yilai Shu · 发表于：Med · 年份：2025 · DOI：10.1016/j.medj.2025.100696 · 被引用次数：8 · 研究领域：Hearing, Cochlea, Tinnitus, Genetics、Hearing Loss and Rehabilitation、Vestibular and auditory disorders

BACKGROUND: Gene therapy shows promising potential for patients with autosomal recessive deafness 9 (DFNB9), with ongoing clinical trials (ChiCTR2200063181). A deeper understanding of changes in audiological characteristics is crucial for optimizing the monitoring and evaluation of patients' recovery post-treatment. METHODS: Audiological data were collected from 10 DFNB9 patients who underwent gene therapy, including auditory brain stem response (ABR), auditory steady-state response (ASSR), distortion product otoacoustic emission (DPOAE), and pure-tone audiometry (PTA) tests. FINDINGS: A clear ABR wave V was observed in all participants by 13 weeks. By 52 weeks, distinct ABR waves I and III were visible in some participants. The 1-kHz ABR wave V latency at 85 dB decreased significantly from 9.220 (range 9.015-9.810) ms at 4 weeks to 8.190 (range 7.780-8.530) ms at 52 weeks (p = 0.004), with a trend toward increased wave V amplitude (p = 0.055). Significant correlations were observed between PTA, ABR, and ASSR thresholds at 0.5-4 kHz. The DPOAE signal-to-noise ratio (SNR) at 26 weeks post-treatment showed no significant difference compared with pre-treatment SNR values, nor were there significant correlations between the pre-treatment SNR values and the post-treatment ABR thresholds. CONCLUSIONS: The study demonstrates that ABR and ASSR are reliable objective tools for assessing hearing recovery in DFNB9 patients after gene therapy. ABR reveals positive changes in the auditory...