[China Tech] Shanghai Experts Lead Research on Congenital Deafness Genetic Therapy Guideline

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The world's first international expert consensus on gene therapy for hereditary hearing loss has been published. Specialists from the Eye, Ear, Nose, and Throat Hospital of Fudan University in Shanghai led this research.

A total of 46 leading specialists from various countries contributed to the research.

According to the World Health Organization, approximately 430 million people worldwide experience hearing disabilities, including 34 million children. For individuals with congenital deafness, about 60 percent of cases are linked to genetic defects, which significantly affect language, cognition, and intelligence development. More than 200 genes associated with deafness have been identified, yet no effective medications are available at this time.

Gene therapy is regarded as a promising treatment option for those with nerve deafness. During this treatment, doctors introduce a specific gene or tool capable of repairing abnormal genes into the patient's cells, aiming to replace or mend mutated genes to address deafness.

The clinical trial for the OTOF genetic mutation has been conducted in several countries, including China, the US, Spain, the UK, and France.

Dr Shu Yilai and his team at the Eye, Ear, Nose and Throat Hospital of Fudan University have pioneered a genetic medicine aimed at treating deafness caused by the OTOF mutation, utilizing a precise and minimally invasive drug delivery method. This marks the world's first successful gene therapy for hereditary deafness.

The OTOF genetic mutation is a significant contributor to severe hearing loss and language disabilities in children, accounting for 41 percent of cases of auditory neuropathy among Chinese children.

Since 2022, Shu's team has successfully treated a dozen deaf patients, yielding highly effective results.

"Genetic treatment offers revolutionary hope for those with inherited hearing loss, particularly as clinical trials targeting the OTOF mutation have demonstrated effective outcomes in numerous countries. However, there is currently no standardized guidance to govern clinical practices worldwide. Therefore, we initiated and developed this consensus to standardize and advance clinical practices," Shu said.

The consensus establishes strict regulations concerning ethical evaluations, patient criteria, treatment processes, drug delivery plans, perioperative medication, long-term management, and rehabilitation for hearing and language. It represents a significant milestone in genetic therapy for deafness and recognizes the contributions of Chinese experts in this field. Additionally, it serves as a reference for genetic treatments for other diseases, he added.

The consensus has been published in the prestigious journal Cell Press.