London — One of the youngest children in the world to receive a new type of gene therapy to treat genetic deafness can now hear for the first time in her life. The family of the toddler taking part in a medical trial called the change in their daughter “mind-blowing”.
Opal Sandy, now 18 months old, was born with total deafness due to a defect in the OTOF gene, which makes a protein called Otoferlin. Otoferlin allows communication between cells in the inner ear, or cochlea, and the brain.
As part of a trial led by the University of Cambridge, Opal received an infusion of a working copy of the OTOF gene into her right ear. The surgery took just 16 minutes and was performed just before her first birthday.
Within weeks, Opal could hear loud sounds.
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In an interview with CBS News’ sister network BBC News, Opal’s mother, Jo Sandy, described seeing her daughter react to the sound for the first time as “absolutely breathtaking.”
She immediately sent a message to her partner, James Sandy, who was at work.
“I’m not sure I believed it at first,” he told the BBC. “I think I said it was just a coincidence, you know? She must have been reacting to something else.”
He came home immediately and removed his daughter’s cochlear implant, a device that bypasses damaged hearing cells by directly stimulating the auditory nerves in the inner ear, and began testing her response to loud clicking sounds down below. stairs. She answered.
Twenty-four weeks after her surgery, Opal was able to hear whispers, leading doctors to describe the level of hearing in her right ear as “close to normal.”
Opal’s doctors “played the sounds that Opal was gravitating toward, and we were pretty blown away by how soft and quiet she was,” the father said. “I think they were sounds that, in everyday life, you might not notice yourself.”
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The little girl even started talking, the family told the BBC, saying words like “Mommy” and “Daddy.”
Opal tolerated the procedure and the gene therapy itself well, and she experienced no adverse effects from the treatments, according to Regeneron, the US company behind the therapy tested in the Chord trial. The study involves children at sites in the United States, Britain and Spain.
In the first of three parts of the trial, a low dose of gene therapy is given to three deaf children in only one ear. This group includes Opal. A higher dose is also given to another group of three children, also in one ear. If it proves safe, more children will receive infusions, in both ears, in a next phase.
Children’s Hospital of Philadelphia announced in January that an 11-year-old Spanish boy, also born hearing impaired, saw his hearing improve after becoming the first person to benefit from gene therapy for congenital deafness in the United States
Congenital deafness – defined as hearing loss present at birth – is estimated to affect approximately 1.7 out of every 1,000 children born in the United States.
Although devices such as hearing aids and cochlear implants help people with different types of hearing loss by amplifying sound, they do not restore the entire sound spectrum.
Opal’s experience and other data from the Chord trial were presented at the annual conference of the American Society of Gene and Cell Therapy, taking place this week in Baltimore.
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