04/07/2025
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In a remarkable breakthrough, scientists have shown that gene therapy can successfully restore hearing in both toddlers and young adults born completely deaf due to a rare genetic condition. This first-of-its-kind clinical trial signals a huge leap toward actually curing, not just managing, inherited hearing loss.
The research targeted people with OTOF-related deafness — a condition caused by mutations in the OTOF gene. This gene normally makes otoferlin, a protein that helps pass sound signals from the inner ear to the brain. Without it, kids are born with profound hearing loss even though the structures inside their ears are perfectly intact. That makes OTOF deafness an ideal candidate for gene therapy: fix the gene, and the existing hardware can start working.
To do this, researchers used a harmless virus as a tiny delivery truck, loaded with healthy copies of the OTOF gene. Injected into the inner ear, the virus sneaks into hair cells and unloads the genetic instructions needed to produce otoferlin, essentially rewiring the ear’s ability to hear.
The team tested this in ten patients ages 1 to 24 across five hospitals. Within just a month, average hearing improvement was 62% on brainwave tests and 78% on behavioral hearing checks. A seven-year-old participant could hear sounds just three days after treatment. Two people even reached near-normal speech perception. Mild side effects like a drop in white blood cells were noted, but there were no serious problems.
Interestingly, kids aged five to eight seemed to benefit most. While scientists expected younger children to show the best results, the brain’s processing of new sounds appears to vary by age — something still not fully understood.
Research Reference :
Qi, J., Zhang, L., Lu, L. et al. AAV gene therapy for autosomal recessive deafness 9: a single-arm trial. Nat Med (2025).
DOI : 10.1038/s41591-025-03773-w
PMID: 40603731
