Gene Therapy May Offer an Effective Alternative to Cochlear Implantation in Patients With Congenital Deafness
Patients with congenital deafness who received OTOF gene therapy (GT) saw stable hearing recovery and faster improvements in auditory and speech performance than those who had received cochlear implantation (CI), according to a cohort study published in JAMA Neurology.
“These findings suggest that GT may provide a novel effective treatment alternative for patients with genetically driven congenital deafness,” wrote first author Xiaoting Cheng, MD, PhD, ENT Institute and Department of Otorhinolaryngology, Eye and ENT Hospital, Fudan University, Shanghai, China, and study coauthors.
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The study followed 72 patients aged 1–18 with severe to complete congenital hearing loss from a single class A tertiary hospital in China. Of those patients, 11 had previously received CI and 61 had received OTOF GT. In addition to comparing the GT and CI groups, the researchers also assessed the outcomes of bimodal (unilateral GT plus contralateral CI) patients vs bilateral CI patients, and GT (CI turned off [CI-off]) patients vs unilateral CI patients.
The researchers assessed auditory perception and speech perception outcomes, including Infant-Toddler Meaningful Auditory Integration Scale/Meaningful Auditory Integration Scale (IT-MAIS/MAIS) scores, and audiometry, speech, and music tests scores, for all groups over a 12-month period. GT patients were evaluated pre-intervention and postoperative at 3, 6, and 12 months, and matched CI patients were evaluated at corresponding intervals.
At 3 months, researchers found comparable auditory and speech perception in both the GT only and CI groups. However, at 6 and 12 months, the GT patients outperformed CI patients in IT-MAIS/MAIS scores (median [IQR] score, 31.0 [30.0-32.0] vs 23.5 [19.0-26.3]; P = .01; median [IQR] score, 32.0 [31.0-32.0] vs 28.0 [24.5-30.5]; P = .007). The GT only group also outperformed the CI patients in auditory response, speech in noise, and music perception test scores at 6 and 12 months.
At 12 months, GT plus CI patients outperformed bilateral CI patients in singing in-tune rates (median [IQR], 66.6% [53.7%-83.9%] vs 37.1% [30.3%-56.3%]; P = .04). GT (CI-off) patients also outperformed CI patients in speech in a noisy environment scores (median [IQR] disyllable, −1.0 [−3.0 to 2.4] dB sound pressure level (SPL) vs 5.3 [3.1 to 12.1] dB SPL; P = .03) at the same timepoint.
“Our results showed that GT, as a novel and cutting-edge intervention, is better than CI in auditory speech perception in noise and music perception, which could become the first choice for treating congenital deafness caused by OTOF variants,” wrote the researchers.
However, the authors acknowledged that GT therapy is currently limited to targeting the OTOF gene variant, whereas CI can be adapted to other types of congenital deafness. “Therefore, for children who are currently not candidates for GT, CI will remain the only treatment option for the foreseeable future,” they concluded.
