A recent research, co-led by Mass Eye and Ear, a part of Mass General Brigham, showcased the success of gene therapy in reinstating hearing function in children with inherited deafness, highlighting promising outcomes for addressing this condition.
Researchers find novel gene therapy for hereditary deafness
In a groundbreaking study conducted at the Eye & ENT Hospital of Fudan University in Shanghai, China, a novel gene therapy demonstrated efficacy in treating a specific type of autosomal recessive deafness known as DFNB9, caused by mutations in the OTOF (otoferlin) gene.
The trial, involving six children, marks the first human clinical trial of gene therapy for this condition, with the initial patient treated in December 2022. Published on January 24 in The Lancet, this research boasts the largest number of patients treated and the longest follow-up period to date, showcasing promising outcomes.
Zheng-Yi Chen, DPhil, an associate scientist at Mass Eye and Ear’s Eaton-Peabody Laboratories and associate professor at Harvard Medical School, emphasized the critical impact of intervention for hearing-impaired children. Chen said the study unveiled impressive weekly improvements in both hearing and speech recovery, underscoring the significance of timely intervention in preventing abnormal brain development.
Over 1.5 billion people globally experience hearing impairment, and around 26 million suffer from congenital deafness. Over 60% of childhood hearing loss is genetically linked.
DFNB9 prevents production of protein crucial in hearing
DFNB9, an inherited condition resulting from OTOF gene mutations, hampers otoferlin protein production crucial for sound signal transmission from the ear to the brain. However, despite the absence of FDA-approved drugs for hereditary deafness, emerging options such as gene therapies are being explored.
A novel treatment for DFNB9 involving an adeno-associated virus carrying the human OTOF gene was tested on six children at Fudan University’s Eye & ENT Hospital. Using varying doses, a single injection into the inner ears showed promising results after 26 weeks, with five children experiencing significant hearing recovery, speech perception improvement, and normal conversation ability. No dose-limiting toxicity was observed, and 96% of the 48 observed adverse events were low-grade and transitory with no long-term impact.
