A small study published in the journal Nature Medicine describes how cutting-edge gene therapy significantly restored hearing in 10 adults and children between the ages of 1 and 24 years old with congenital deafness, with dramatic results in one month after a single injection, which was well-tolerated by the participants with deafness or severe hearing impairment caused by mutations in a gene called OTOF.
“This is a huge step forward in the genetic treatment of deafness, one that can be life-changing for children and adults,” says Maoli Duan, consultant and docent at the Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Sweden, and one of the study’s corresponding authors.
Effects within a month
Gene therapy involved a synthetic adeno-associated virus (AAV) to deliver a functional version of the OTOF gene to the inner ear via a single injection through a membrane at the base of the cochlea called the round window. The injections were to target mutations in OTOF that can cause deficiencies of the otoferlin protein, that plays key roles in transmitting auditory signals.
According to the researchers, the effects of the gene therapy were rapid, and the majority of the participants recovered some hearing after one month. At a 6-month follow-up, all participants showed considerable improvements, with the average perceptible volume of sound improving from 106 decibels to 52 decibels.
Better results in children
Although all participants experienced improvements, younger participants between the ages of 5 and eight years old appeared to respond the best to the gene therapy treatment. In particular, one 7-year-old girl recovered almost all of her hearing, having daily conversations within four months after treatment.
Gene therapy safe and well-tolerated
“Smaller studies in China have previously shown positive results in children, but this is the first time that the method has been tested in teenagers and adults, too,” says Dr. Duan. “Hearing was greatly improved in many of the participants, which can have a profound effect on their life quality. We will now be following these patients to see how lasting the effect is.”
The gene therapy treatment was observed to be safe and well tolerated, with the most common adverse reactions being a reduction in the number of neutrophil white blood cells. There were no serious adverse reactions reported in the follow-up periods of 6 to 12 months.
“OTOF is just the beginning,” says Dr. Duan. “We and other researchers are expanding our work to other, more common genes that cause deafness, such as GJB2 and TMC1. These are more complicated to treat, but animal studies have so far returned promising results. We are confident that patients with different kinds of genetic deafness will one day be able to receive treatment.”
This article was created at the WHN News Desk.
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References/Sources/Materials provided by:
https://news.ki.se/gene-therapy-restored-hearing-in-deaf-patients
”AAV gene therapy for autosomal recessive deafness 9: a single-arm trial”, Jieyu Qi, Liyan Zhang, Ling Lu, Fangzhi Tan, Cheng Cheng, Yicheng Lu, WenXiu Dong, Yinyi Zhou, Xiaolong Fu, Lulu Jiang, Chang Tan, Shanzhong Zhang, Sijie Sun, Huaien Song, Maoli Duan, Dingjun Zha, Yu Sun, Xia Gao, Lei Xu, Fan-Gang Zeng, Renjie Chai, Nature Medicine, online 2 July 2025, doi: 10.1038/s41591-025-03773-w.
