Deaf toddler able to hear unaided after pioneering UK trial
One-and-done gene therapy could lead to a deafness cure
ABritish girl has had her hearing restored after becoming the first person in the world to take part in a groundbreaking new gene therapy trial.
Opal Sandy, who is 18 months old, was born completely deaf with the condition auditory neuropathy, which is caused by the disruption of nerve impulses travelling from the inner ear to the brain.
Now, thanks to a “one and done” gene therapy being trialled in the UK and worldwide, Opal’s hearing is almost normal – and could even improve further.
The little girl, from Oxfordshire, who has a genetic form of the condition, was treated at Addenbrooke’s Hospital, which is part of Cambridge University Hospitals NHS Foundation Trust.
Professor Manohar Bance, an ear surgeon at the trust and chief investigator for the trial, said the results were “better than I hoped or expected” and may cure patients with this type of deafness.
He said: “We have results from (Opal) which are very spectacular – so close to normal hearing restoration. So we do hope it could be a potential cure.”
Auditory neuropathy can be caused by a fault in the OTOF gene, which is responsible for making a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve.
To overcome the fault, the ‘new era’ gene therapy – from biotech firm Regeneron – delivers a working copy of the gene to the ear.
In Opal’s case, she received an infusion containing the working gene to her right ear during surgery last September.
Her parents Jo and James, both 33, noticed improvements after just four weeks when Opal turned her head to loud clapping.
“When she first turned, I couldn’t believe it,” Mrs Sandy said. “I thought it was a fluke or like a change in light or something that had caught her eye, but I repeated it a few times.
“I picked my phone up and texted James, and said ‘I think it’s working’. I was absolutely gobsmacked. I thought it was a fluke.”
But even more impressive results were on the horizon.
Some 24 weeks after surgery, in February this year, tests in Cambridge showed Opal could also hear soft sounds such as a whisper.
Prof Bance said Opal’s hearing is now close to normal, saying: “We hope she’ll get back to normal by the next testing.”
He added that the treatment is “a one-anddone therapy, so hopefully you have your treatment and then you go back to your life”.
A second child has also received the gene therapy treatment at Cambridge University Hospitals, with positive results seen recently, six weeks after surgery.
Martin McLean, senior policy adviser at the National Deaf Children’s Society, welcomed the study, saying it was a historic milestone that would lead to learning regarding gene therapies for deafness with a specific genetic cause.