This extraordinary development from Sweden’s Karolinska Institutet was announced in a July 3, 2025 news item on ScienceDaily, Note: This treatment was designed for a very specific type of genetically based deafness,
Gene therapy can improve hearing in children and adults with congenital deafness or severe hearing impairment, a new study involving researchers at Karolinska Institutet reports. Hearing improved in all ten patients, and the treatment was well-tolerated. The study was conducted in collaboration with hospitals and universities in China and is published in the journal Nature Medicine.
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The study comprised ten patients between the ages of 1 and 24 at five hospitals in China, all of whom had a genetic form of deafness or severe hearing impairment caused by mutations in a gene called OTOF. These mutations cause a deficiency of the protein otoferlin, which plays a critical part in transmitting auditory signals from the ear to the brain.
Effect within a month
The gene therapy involved using 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.
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Best results in children
The younger patients, especially those between the ages of five and eight, responded best to the treatment. One of the participants, a seven-year-old girl, quickly recovered almost all her hearing and was able to hold daily conversations with her mother four months afterwards. However, the therapy also proved effective in adults.
“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.”
No serious adverse reactions
The results also show that the treatment was safe and well-tolerated. The most common adverse reaction was a reduction in the number of neutrophils, a type of white blood cell. No serious adverse reactions were reported in the follow-up period of 6 to 12 months.
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A July 2, 2025 essay for The Conversation by Maoli Duan, one of the study’s authors, associate professor, and senior consultant at the Karolinska Institutet, provides more detail and context for the work, Note: Links have been removed,
Up to three in every 1,000 newborns has hearing loss in one or both ears. While cochlear implants offer remarkable hope for these children, it requires invasive surgery. These implants also cannot fully replicate the nuance of natural hearing.
But recent research my colleagues and I conducted has shown that a form of gene therapy can successfully restore hearing in toddlers and young adults born with congenital deafness.
Our research focused specifically on toddlers and young adults born with OTOF-related deafness. This condition is caused by mutations in the OTOF gene that produces the otoferlin protein –a protein critical for hearing.
The protein transmits auditory signals from the inner ear to the brain. When this gene is mutated, that transmission breaks down leading to profound hearing loss from birth.
Unlike other types of genetic deafness, people with OTOF mutations have healthy hearing structures in their inner ear – the problem is simply that one crucial gene isn’t working properly. This makes it an ideal candidate for gene therapy: if you can fix the faulty gene, the existing healthy structures should be able to restore hearing.
In our study, we used a modified virus as a delivery system to carry a working copy of the OTOF gene directly into the inner ear’s hearing cells. The virus acts like a molecular courier, delivering the genetic fix exactly where it’s needed.
The modified viruses do this by first attaching themselves to the hair cell’s surface, then convincing the cell to swallow them whole. Once inside, they hitch a ride on the cell’s natural transport system all the way to its control centre (the nucleus). There, they finally release the genetic instructions for otoferlin to the auditory neurons.
Our team had previously conducted studies in primates and young children (five- and eight-year-olds) which confirmed the virus therapy was safe. We were also able to illustrate the therapy’s potential to restore hearing – sometimes to near-normal levels.
But key questions had remained about whether the therapy could work in older patients – and what age is optimal for patients to receive the treatment.
To answer these questions, we expanded our clinical trial across five hospitals, enrolling ten participants aged one to 24 years. All were diagnosed with OTOF-related deafness. The virus therapy was injected into the inner ears of each participant.
We closely monitored safety during the 12-months of the study through ear examinations and blood tests. Hearing improvements were measured using both objective brainstem response tests and behavioural hearing assessments.
From the brainstem response tests, patients heard rapid clicking sounds or short beeps of different pitches while sensors measured the brain’s automatic electrical response. In another test, patients heard constant, steady tones at different pitches while a computer analysed brainwaves to see if they automatically followed the rhythm of these sounds.
For the behavioural hearing assessment, patients wore headphones and listened to faint beeps at different pitches. They pressed a button or raised their hand each time they heard a beep – no matter how faint.
Hearing improvements were both rapid and significant – especially in younger participants. Within the first month of treatment, the average total hearing improvement reached 62% on the objective brainstem response tests and 78% on the behavioural hearing assessments. Two participants achieved near-normal speech perception. The parent of one seven-year-old participant said her child could hear sounds just three days after treatment.
Over the 12-month study period, ten patients experienced very mild to moderate side-effects. The most common adverse effect was a decrease in white blood cells. Crucially, no serious adverse events were observed. This confirmed the favourable safety profile of this virus-based gene therapy.
Treating genetic deafness
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If you have time, Duan’s July 2, 2025 essay provides a few more details about the work and the researchers’ future plans.
Here’s a link to and a citation for the paper,
AAV gene therapy for autosomal recessive deafness 9: a single-arm trial by 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 (2025) DOIhttps://doi.org/10.1038/s41591-025-03773-w: Published: 02 July 2025
This paper is behind a paywall.

