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Clinical Research · English Editorial Summary

Gene therapy for congenital deafness: multicentre results tracked for 2.5 years reach Nature

A Nature-published study reports that AAV-hOTOF gene therapy restored clinically meaningful hearing in most treated children with OTOF-related deafness. Peking Union Medical College Hospital was one of eight core Chinese centres in the trial, led locally by its otolaryngology team.

Original report: 30 April 2026English summary: 5 May 2026Source: PUMCH official websiteEdited by Wellward China
Source and editorial note: This is an original English summary based on PUMCH’s Chinese-language report, published 30 April 2026, about a study published in Nature on 22 April 2026. It is not a full translation or an independent clinical assessment.
What was published

The world's first congenital deafness gene therapy trial, with long-term data

On 22 April 2026, the journal Nature published the 2.5-year multicentre follow-up of the world’s first gene therapy clinical trial for congenital deafness. The therapy, AAV-hOTOF, targets deafness caused by mutations in the OTOF gene (DFNB9). PUMCH was one of eight core units across China, having joined the RRG-003 AAV study in July 2024; its otolaryngology team, led by principal investigators Gao Zhiqiang and Feng Guodong, handled participant recruitment, treatment, follow-up and data collection with a multidisciplinary team spanning anaesthesia, neurology, paediatrics and radiology.

What the 2.5-year data showed

The report summarises hearing outcomes that are notably strong for a first-in-human gene therapy programme, though they come from a trial population under specialist follow-up.

Reported results — trial population, not a general guarantee

90% of participants achieved clinically meaningful hearing recovery, with improvement gradual and stable over time. Among participants completing 2.5-year follow-up, all recovered to the level of recognising everyday conversational speech; 57% could identify quiet library-level sounds and 43% could hear whispers. Two of three adult participants also improved. Response varied by age: 100% in children aged 0.5–3 years, 92% at ages 3–8, and 60% at ages 8–18. Baseline otoacoustic emissions (DPOAE) at more frequencies predicted better outcomes, and the therapy appeared applicable across OTOF mutation types.

Uniform editorial cover image used across Wellward China resource summaries (placeholder)

What this is — and is not

This is a trial-stage therapy for a specific genetic cause of deafness — OTOF mutations account for only a fraction of congenital hearing loss. The published account describes the treatment as safe and effective within the study, but routine clinical availability, long-term durability beyond 2.5 years, and results outside specialist trial centres remain open questions. It does not apply to deafness from other genetic or acquired causes.

What comes next

The multicentre programme continues to expand. PUMCH’s report does not state when the therapy might become routinely available or at what cost. For now, access runs through specialised centres and approved clinical studies rather than standard ENT clinics.

Relevance for families

For parents of children with congenital hearing loss, the study underlines two practical points: genetic testing identifies whether a child’s deafness matches the therapy’s target, and early diagnosis matters because younger children showed the strongest responses. This falls under Wellward China’s Children's, Congenital & Genetic and Ear, Nose & Throat health areas. This page is general information, not medical advice.