by A deaf toddler can now hear after becoming the first patient in the world to receive a new gene therapy.
Opal Sandy, an 18-month-old girl from Oxfordshire, was born with a genetic form of a condition called auditory neuropathy, which affects nerve impulses traveling from the inner ear to the brain and prevents sound from being heard. processing.
In September, she became the first person in the world to receive gene replacement treatment as part of a global trial, and experts are excited about the “potential cure” for the condition.
Opal, like her five-year-old sister Nora, was born with a defective version of the OTOF gene, which carries the instructions to produce a neurotransmitter that allows the ear to communicate with the brain. The malfunction causes severe hearing loss.
Nora’s diagnosis meant Opal was eligible for genetic testing on the NHS, which also found she had the faulty gene. The condition was not picked up by newborn screening tests in either child.
Although Nora has cochlear implants in both ears, which are currently the gold standard treatment, Opal was able to enter the gene therapy trial, although she has an implant in one ear as a safety measure.
The gene therapy, called DB-OTO and manufactured by Regeneron, works by replacing the faulty gene with a working version. It is administered by a single injection of a harmless modified virus that carries the new genetic material.
The treatment means that the sensory cells of the ear are able to produce a vital protein called otoferlin which is needed for the tiny cells in the ear to transmit signals to the brain.
Opal’s parents, Jo and James Sandy, noticed improvements after three weeks and things have not improved since. Opal’s doctors say her hearing is now “almost normal for her age” although progress will become more apparent as she learns to speak.
Jo Sandy, a 33-year-old geography teacher, said it was “bonkers” how quickly her daughter had learned to listen.
“We’ve been experimenting with quite loud sounds, like clapping, clapping, wooden spoons on soap, that kind of intermittent loud noise,” she said.
“I was testing that with her implant on and I didn’t realize her implant had come off, and she turned around clapping quite loudly. When she first turned, I couldn’t believe it.
“I thought it was a puke or a change in light or something that caught her eye, but I repeated it a few times. I was completely gobsmacked.”
Opal, who underwent surgery at Addenbrooke’s Hospital in Cambridge, is one of up to 18 children to be enrolled in the trial, which is taking place in the UK, the US and Spain.
Although Opal received a low dose to one ear, other children will be given higher doses to the other ear, before some children receive the treatment in both ears when there is more evidence that it is safe.
Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust, which runs Addebnbrooke’s, and the trial’s principal investigator, said the results were “better than I expected or expected” after 24 weeks. .
‘We hope it could be a potential cure’
“We have results from [Opal] which is amazing – so close to normal hearing restoration. So we hope it could be a possible cure.
“In terms of being able to hear soft sounds (like a soft whisper), she can hear almost normal for her age,” he said. “We don’t know that she understands speech in the same way because she’s too young, but she can definitely respond to soft sounds.”
The second child received the gene therapy treatment at Cambridge University Hospitals, with positive results recently seen, six weeks after the surgery, and other gene therapies for deafness are being tested in China and the US.
Professor Bank estimates that there are around 20,000 people in the US, Germany, France, Italy, Spain and the UK who have auditory neuropathy caused by OTOF mutations.
Martin McLean, senior policy adviser at the National Deaf Children’s Association, said: “This trial will teach us more about the effectiveness of gene therapy in those cases where there is a specific genetic cause of deafness.
“We want to point out that, with the right support from the start, deafness should not be a barrier to happiness or fulfillment.”
Sisters ‘compete to make the most noise’
Mrs Sandy said Opal started talking in the past six weeks and now her two daughters “like to see who can make the loudest noise”.
“She’s good at your first common baby words, so ‘daddy’, ‘uh oh’, ‘bye’ are her favourites,” she said.
“I’ve always said I’d never get bothered by them making noise and I manage to annoy them by making noise,” Mrs Sandy joked.
“Opal loves playing with her little musical instrument set … playing the drums, playing her little piano, hitting some of her wooden blocks and stuff like that.
“Nora has recently got into music and (Opal) likes to put her hands up and does little dances in the kitchen.
“So they like to dance together. Nora likes to read with her, they like to fight, they like to jump off the sofa.”
The results of the Cord trial were presented on Wednesday at the American Society of Gene and Cell Therapy conference in Baltimore in the US.
