Opal Sandy was treated shortly before her first birthday and, six months later, she can hear sounds as soft as a whisper and is starting to talk, saying words like “mom” and “dad.”
The therapy, which is administered as an infusion into the ear, replaces defective DNA that causes their type of deafness, which is hereditary.
The girl is part of a clinical trial that is being carried out in the United Kingdom, the United States and Spain.
Doctors in other countries, including China, are also exploring very similar treatments for OTOF gene mutation that Opal has.
Difficult decision
Her parents, Jo and James, from Oxfordshire, a county in the south of the United Kingdom, say the results have been incredible, but acknowledge that allowing Opal to be the first to try this treatment, made by Regeneron, was extremely difficult.
“It was really scary, but we had been given this unique opportunity,” Jo told me.
His sister, Nora, five years old, has the same type of deafness and copes well with a electric cochlear implant.
Instead of increasing the volume of sound, as happens with a hearing aid, this implant gives the patient the “feeling” of hearing, directly stimulating the auditory nerve that communicates with the brain, bypassing the damaged hair cells that detect the sound. sound in a part of the inner ear known as the cochlea.
Instead, the therapy uses a modified and harmless virus to introduce a functional copy of the OTOF gene into these cells.
Opal received the therapy in her right ear, under general anesthesia, and had a cochlear implant placed in her left ear.
Just a few weeks later, he might hear loud sounds, like clapping, in his right ear. AND following six months, His doctors at Addenbrooke’s Hospital in Cambridge confirmed that the ear had a almost normal hearing for soft sounds, even very quiet whispers.
“It’s wonderful to see her respond to sounds,” lead researcher and ear surgeon Professor Manohar Bance told the BBC.
“It is a very joyful moment.”
Other types of hearing loss
Experts hope the therapy can also work for other types of profound hearing loss.
More than half of cases of hearing loss in children have a genetic cause. And Bance hopes the trial might lead to the use of gene therapy for more common types of hearing loss.
“What I hope is that we can start using gene therapy in young children… where we actually restore hearing and they don’t have to have cochlear implants and other technologies that need to be replaced.”
Hearing loss caused by a variation in the OTOF gene is not commonly detected until children are two or three years old, when a delay in speech is likely.
“The sooner we can restore hearing, the better for all children because the brain begins to close its plasticity [adaptabilidad] following three years approximately,” says Bance.
Opal’s experience, along with other scientific data from the trial, will be presented at the American Society for Gene and Cell Therapy in Baltimore, USA.
Additional reporting by Nicki Stiastny and James Anderson.
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