Breakthrough Gene Therapy Enables Infant Born Deaf to Hear

FRIDAY, May 10, 2024 (HealthDay News) -- Significant hearing improvements have been achieved in an infant with profound hearing loss due to a biallelic otoferlin gene (OTOF) mutation, according to the results of a first-in-human gene therapy trial presented at the annual meeting of the American Society of Gene & Cell Therapy, held from May 7 to 11 in Baltimore.

The gene therapy that the 10-month-old female infant with auditory neuropathy received involved the transmission into her right ear of a working copy of the OTOF gene, delivered during surgery into the ear's cochlea via a harmless virus called AAV1. The baby girl was also fitted out with a cochlear implant in her left ear. Six months later, she could respond to sound even when her left ear cochlear implant was switched off. She could even detect low sounds such as whispers in her treated right ear.

"These results are spectacular and better than I expected," Manohar Bance, M.B.,Ch.B., an ear surgeon at Cambridge University in the United Kingdom and chief investigator of the new trial, said in a statement. "Gene therapy has been the future in otology and audiology for many years and I'm so excited that it is now finally here. This is hopefully the start of a new era for gene therapies for the inner ear and many types of hearing loss."

The gene deficiency behind auditory neuropathy often goes undetected in newborn screenings, so children with the condition are often not diagnosed until age 2 or 3, when delays in speech have set in.

"We have a short time frame to intervene because of the rapid pace of brain development at this age," Bance said. "Delays in the diagnosis can also cause confusion for families as the many reasons for delayed speech and late intervention can impact children's development.”

The global trial is ongoing, and experts believe gene therapy could revolutionize the treatment of hearing loss.

The trial is sponsored by Regeneron.

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