A clinical trial led by the Eye & ENT Hospital of Fudan University in Shanghai reported success treating congenital deafness caused by mutations in the OTOF gene [1]. The trial enrolled 42 patients ranging from 9 months to 32 years old and followed them for up to two and a half years [1]. Researchers reported an overall response rate of 90% across all subjects [1]. Among children aged 6 months to 3 years, the therapy achieved a 100% response rate [1].
The study, published in Nature on April 22, was conducted in collaboration with Harvard Medical School and Peking Union Medical College Hospital [1]. Researchers said it is the first and largest gene therapy trial targeting congenital deafness [1].
The treatment involves delivering a functional copy of the defective OTOF gene into inner-ear cells using a viral vector via minimally invasive surgery [1]. According to the research team, "The more cochlear function is preserved before treatment, the better the therapeutic outcome" [1].
The trial began in 2022 and represents a major step in gene therapy for hereditary hearing loss [1]. The researchers plan continued follow-up of patients to monitor long-term safety and efficacy.