Globally, over 26 million individuals grapple with congenital hearing loss, with roughly 60% of these cases stemming from genetic mutations. DFNB9 deafness, in particular, arises from mutations in the OTOF gene, a condition that traditional cochlear implant surgeries have struggled to address effectively. At the forefront of this medical frontier, Professor Shu Yilai and his team at the Eye & ENT Hospital of Fudan University embarked on a groundbreaking AAV gene therapy study targeting patients with DFNB9 deafness. After 2.5 years of meticulous research, they unveiled their findings, demonstrating that 90% of the treated patients successfully regained their hearing, with consistent and steady improvements in auditory function. This study is the first to shed light on the long-term trajectories of hearing and speech enhancement in such patients.

As the inaugural, largest, and most extended follow-up clinical trial on gene therapy for congenital deafness worldwide, this research encompassed a diverse cohort of participants ranging from 9-month-old infants to 32-year-old adults. The study revealed that treatment outcomes were influenced by a myriad of factors, including age, the residual functionality of inner ear hair cells, and the specific type of gene mutation. These insights provide a crucial foundation for refining clinical patient selection criteria and tailoring treatment plans.

This research not only underscores the safety and promising efficacy of AAV1-hOTOF gene therapy but also ignites a beacon of hope for a potential 'cure' for hereditary deafness. Furthermore, the team has also spearheaded the development of the world's first international expert consensus on gene therapy for congenital deafness, marking a significant milestone in the field.