A groundbreaking gene therapy technique has provided the gift of hearing to five children who were born deaf. This innovative method, designed to overcome challenges posed by large genes, holds promise for potential applications in various treatments, according to researchers.
Conducted in Fudan, China, the study was a collaborative effort led by researchers from Harvard Medical School at Massachusetts Eye and Ear, working alongside partners at Fudan University’s Eye & ENT Hospital. The focus of the research was on treating six children aged 1 to 7 who possessed a mutation in the OTOF gene. This gene is responsible for producing a crucial protein involved in transmitting signals from the ear to the brain.
Results from the 26-week trial revealed that five out of the six children exhibited an improvement in hearing, with four of these outcomes described as “robust” by the researchers. Given the fundamental role of hearing in language acquisition, the study also assessed speech perception — the ability to recognize sound as speech. All five children who responded positively to the treatment showed significant improvement in this aspect.
Globally, over 1.5 billion people are affected by hearing loss, including approximately 30 million cases of genetic impairment in children. The trial focused on individuals with a mutation in the OTOF gene known as DFNB9, accounting for 2 to 8 per cent of all cases of genetic deafness from birth.
The OTOF gene is responsible for encoding the otoferlin protein, produced by cells in the cochlea, a snail-shaped part of the inner ear. In the cochlea, sound waves are transformed into electric pulses, which are then carried by nerve cells to the brain for interpretation as sound. Otoferlin plays a crucial role in transmitting pulses from cochlear cells to the nerves, and without it, the sound is translated into electric signals but fails to reach the brain. This groundbreaking therapy offers hope for those facing genetic deafness due to OTOF mutations, marking a significant advancement in the field of gene therapy for hearing-related conditions.
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Moving forward, the researchers plan to continue monitoring the participants involved in this study, ensuring a comprehensive understanding of the long-term effects and success of the gene therapy. Additionally, they aim to initiate a new study with participants from more diverse backgrounds, further expanding the scope and applicability of their findings.
With optimistic prospects, Chen expressed that if all progresses as anticipated, the approval of this innovative treatment by U.S. federal regulators could potentially be achieved within a relatively short timeframe, ranging from three to five years. Such advancements in gene therapy offer hope for individuals affected by genetic hearing impairments, marking a significant stride toward accessible and effective treatments for various conditions related to hearing loss.
