World's first gene therapy helps children born deaf to hear
British media The Independent has covered a case in which a child who was born deaf has had his hearing restored to almost normal through a groundbreaking gene therapy that only requires a single injection of a treatment liquid into the ear.
Deaf girl cured in world's first gene therapy trial | The Independent
Opal Sandy, 18 months old at the time of writing, lives in Oxfordshire, England, and was born completely deaf due to a hearing disorder caused by a blockage of nerve signals from the inner ear to the brain.
Opal's auditory neuropathy is caused by a defect in the OTOF gene, which makes a protein called otoferin, which is needed by cells in the ear to transmit sound signals to the auditory nerve.
To improve her hearing loss, Opal underwent a gene therapy developed by the biotechnology company Regeneron in September 2023, and had a treatment solution containing a gene that restored hearing in her right ear during surgery.
The surgery involves administering general anesthesia and then passing a hole in the ear to allow treatment fluid to reach the ear, which is very similar to the implant surgery that has traditionally been performed to improve hearing loss.
As a result of the gene therapy, Opal's hearing improved after four weeks, and she began to turn around when her parents clapped their hands. Her mother, Jo Sandy, said, 'When she turned around for the first time, I couldn't believe it, and I thought maybe I saw something move by chance, so I did it several times. Then I texted my husband James and said, 'It seems to have worked.''
Shortly thereafter, her parents received even more exciting news: a checkup in February 2024, about 24 weeks after the surgery, revealed that Opal could hear not only loud sounds but also soft sounds like whispers.
Opal (center), who underwent gene therapy, and her parents Sandy and Margaret, with her sister Nora on the left.
Dr Manohar Vance, the doctor who treated Opal at Addenbrooke's Hospital, said: 'The results are fantastic - she came very close to regaining normal hearing - so we're hopeful that this could be a novel treatment.'
Tests have shown that Opal's hearing can respond to sounds between 25 and 30 decibels, which is very close to the normal level of 20 decibels, and Vance believes that her hearing will eventually become completely normal.
Opal is the first person in the world to have her hearing restored by Regeneron's gene therapy, and is believed to be the youngest patient in the world to have received such treatment. The treatment is currently undergoing clinical trials in the UK, Spain and the US, involving up to 18 children. A similar gene-targeted treatment is also being tested in China, where it has shown good results.
The current standard of care for hearing loss is a cochlear implant, and Opal had one implanted in her left ear during the gene therapy surgery on her right ear.
If further trials of the treatment are conducted and its safety is proven, it could be possible for hearing-impaired children around the world to receive gene therapy for both ears.
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