[China Tech] Nature Publishes Research Report on Locally-Developed Gene Therapy for Deafness

China Tech is a column dedicated to the innovations reshaping China – and, inevitably, the world. From cutting-edge AI labs and next-generation robotics to apps that redefine daily life, we explore the breakthroughs that emerge from the country's relentless drive for technological dominance. Some are game-changers, others cautionary tales, but all offer a glimpse into the future as it's being built, at breakneck speed, in China.

Medical researchers in Shanghai have completed the world's first clinical study for a successful gene therapy against hereditary deafness, marking the longest observation period and largest patient cohort to date. The trial involved patients aged from 9 months to 32 years, including both domestic and international participants.

The research report was published in Nature, one of the world's leading academic journals.

Globally, approximately 26 million people live with congenital deafness. In China, around 30,000 deaf children are born each year, with 60 percent of cases linked to genetic defects – a condition that severely impairs language acquisition, cognitive development, and intellectual growth. To date, no effective pharmacotherapy has been available.

The OTOF gene mutation represents a major cause of congenital deafness, with most patients experiencing profound hearing loss accompanied by language and learning disabilities.

For a long time, congenital deafness has lacked effective treatment. With advances in biomedicine, gene therapy has emerged as one of the most promising strategies for hereditary deafness. Delivering functional genes directly into the inner ear can help restore patients' hearing.

Approximately 90 percent of patients achieved functional hearing after treatment, with a sustained and stable improvement trend. ...All responding patients can hear sufficiently for daily communication. Around 57 percent can perceive soft background noises in a quiet library, and 43 percent are able to hear whispers.

Dr Shu Yilai from the Eye, Ear, Nose and Throat Hospital of Fudan University

Dr Shu Yilai from the Eye, Ear, Nose and Throat Hospital of Fudan University has devoted more than a decade to gene therapy for deafness. His team successfully developed a gene medicine targeting OTOF mutation-induced deafness, supported by a precise, minimally invasive drug delivery system and specialized equipment.

The therapy uses an adeno-associated virus (AAV) vector to deliver functional OTOF genes into target cells, correcting genetic defects, treating the condition, and restoring hearing. Administered via a single intra-inner ear injection, the treatment helps people with OTOF mutations recover or improve hearing and language ability.

In 2022, his team launched the world's first clinical trial for a congenital deafness gene therapy. Reports on multiple findings have since been published in top-tier journals, attracting global attention.

Building on these breakthroughs, the hospital collaborated with seven other leading hospitals nationwide to conduct an expanded clinical trial.

Over a 2-1/2-year research period, a total of 42 deaf patients with OTOF mutations were enrolled, covering infants, children, adolescents, and adults. The trial also included three expatriate patients from the United States, India, and South Korea.

"Approximately 90 percent of patients achieved functional hearing after treatment, with a sustained and stable improvement trend," Shu noted. "All responding patients can hear sufficiently for daily communication. Around 57 percent can perceive soft background noises in a quiet library, and 43 percent are able to hear whispers.

"Pediatric patients show better outcomes than adults, especially those aged 6 months to 3 years. This underscores the critical importance of early screening, early diagnosis, and early intervention."

"We are currently completing research required by the National Medical Products Administration," he added. "Once finalized, the drug will be approved for market launch and widespread use, bringing benefits to many more patients."

"We have received consultation e-mails from many patients from all over the world. We welcome eligible patients to come to Shanghai for treatment."

If you want to consult about the gene therapy

Expatriate patients can contact Shu's team through ear@fdeent.org.