Opal Sandy (left), who was born completely deaf due to a rare genetic condition and can now hear unaided for the first time after receiving breakthrough gene therapy aged 11 months, pictured with her mum Jo, dad James and sister Nor. Photo credit: Andrew Matthews, PA Images / Alamy / Profimedia
A 3-year-old girl who received a revolutionary gene therapy treatment to treat profound hearing loss can hear sounds two years after the procedure, ABC News reports.
Opal Sandy made history in 2023 when, at the age of 11 months, she became the youngest patient in the world to receive a gene therapy injection in her right ear, a revolutionary treatment for the deafness she was born with due to mutations in the OTOF gene, which codes for the protein otoferlin, needed to transmit sound signals to the brain, a hereditary condition.
OTOF mutations represent between 2% and 8% of cases of congenital deafness, suggest the first studies in this field. One in 1,000 children born in the United States suffers from moderate to profound hearing loss, according to Reuters.
The gene therapy treatment, a 15-minute procedure during which Opal was under general anesthesia, inserted a working copy of the OTOF gene into the girl's right cochlea, the part of the inner ear used for hearing.
During the same procedure, performed in the United Kingdom, where Opal's family lives, doctors also placed a cochlear implant in her left ear.
Two years after the procedure, Opal's parents say their daughter can hear normally, even with the cochlear implant in her left ear turned off.
The transformation, “amazing”
Opal's mother, Jo Sandy, told “Good Morning America” that the transformation she has seen in her daughter's hearing is “amazing.”
She said that before the procedure, neither Opal nor her older sister Nora, 6, who was born deaf due to the same hereditary condition, could hear even the “highest levels” of noise.
“Both girls couldn't hear anything at all,” Sandy said.
The Opal procedure was carried out as part of a clinical trial for the therapy known as DB-OTO gene therapy, with patients in the UK as well as the United States, Spain and Germany.
Regeneron, the New York-based pharmaceutical company that uses the DB-OTO therapy, announced on Oct. 12 that 11 of 12 patients in the clinical trial, including Opal, experienced “clinically significant” improvements in hearing “within weeks” of the procedure, and many continue to make progress to this day.
The company says it wants to continue the study to include children under the age of 18.
