NEWS  Science  January 29, 2024  Reading time: 2 Minute(s)

Max (RS editor)

In a groundbreaking clinical trial, gene therapy has emerged as a beacon of hope for children born deaf due to autosomal recessive deafness 9 (DFNB9).

 HARVARD MEDICAL SCHOOL [IMAGE BY: HMS] 

Led by researchers from Harvard Medical School, Massachusetts Eye and Ear, and Fudan University in China, this study marks a significant milestone in the quest to restore hearing among individuals with genetic hearing impairments

DFNB9, stemming from a mutation in the OTOF gene, deprives individuals of the ability to produce the crucial otoferlin protein necessary for transmitting electrical signals from the cochlea to the brain. However, with the advent of gene therapy, this genetic anomaly presents an opportunity for targeted intervention without the need for invasive procedures like cochlear implants.

 A COCHLEAR IMPLANT [IMAGE BY: WIKIPEDIA] 

The innovative approach involves packaging the OTOF gene into viral carriers, which are then injected into the inner ear fluid. These viral vectors effectively deliver the gene to cochlear cells, enabling them to produce the missing otoferlin protein and thereby restoring hearing function.

In the trial comprising six children aged between one and seven years old, remarkable outcomes were observed after six months of treatment. Five out of six participants exhibited significant improvements, ranging from the ability to recognize speech to engaging in conversations—a testament to the efficacy of gene therapy in addressing DFNB9-induced deafness.

Despite these promising results, challenges remain, as evidenced by one participant who did not respond to the treatment, possibly due to an immune reaction disrupting the viral vector. However, ongoing research endeavors aim to decipher such hurdles and refine the therapeutic approach for broader applicability.

The implications of this breakthrough extend beyond the confines of the trial, offering renewed optimism for individuals grappling with genetic forms of hearing loss worldwide. While the journey towards regulatory approval in the United States may span three to five years, the prospect of gene therapy as a viable treatment option beckons a new era in auditory rehabilitation.

 COVER IMAGE BY FREEPIK