‘Unbelievable’... tot Opal hears for first time after miracle gene therapy
A BRITISH toddler has become the first deaf person in the world to be given hearing abilities through a groundbreaking gene therapy.
Opal Sandy, 18 months, was born completely deaf due to auditory neuropathy, a condition caused by the disruption of nerve impulses travelling from the inner ear to the brain.
Now, thanks to a “one and done” gene therapy trial, Opal’s hearing is almost normal and could even further improve.
The youngster, from Eynsham, Oxfordshire, was treated at Addenbrooke’s Hospital, part of Cambridge University Hospitals NHS Foundation Trust.
Injection
Ear surgeon Professor Manohar Bance said the results were “better than I hoped or expected”.
He added: “We have results which are very spectacular, so close to normal hearing restoration. So we do hope it could be a potential cure.”
Opal’s form of auditory neuropathy is caused by a fault in the OTOF gene, which is responsible for making a protein called otoferlin. This protein enables cells in the ear to communicate with the hearing nerve.
The therapy, administered via an injection into the cochlea during surgery under general anesthesia, delivers a working copy of the gene.
Her parents Jo and James noticed improvements to her hearing in just four weeks, but the results were particularly impressive 24 weeks later. Jo said: “When she first turned, I couldn’t believe it. I thought it was a fluke or 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.”
Some 24 weeks after surgery, tests in Cambridge showed Opal could also hear soft sounds such as a whisper.
Jo added: “The audiologist played back some of the sounds that she was responding to and they were ridiculously quiet sounds that in the real world wouldn’t catch your attention during a conversation.
“Certainly since February, we’ve noticed her sister [Nora] waking her up in the morning because she’s running around on the landing, or someone rings on the door so her nap is cut short.
“She’s definitely responding more to what we would call functional sounds rather than just sounds that we use to test her.” Prof Bance said: “In terms of being able to hear soft sounds like a whisper, she can hear almost normally for her age. “We don’t know that she can understand speech in the same way because she’s too young, but certainly she can respond to soft sounds.” Prof Bance said Opal’s hearing was now “close to normal”, adding: “We hope she’ll get back to normal by the next testing.”
Regarding the success of the toddler’s case, Prof Bance added: “My entire life, gene therapy has been ‘five years away’, and I’ve been in practice about 30 years.
“So, for me, it was almost unreal that this moment had arrived.
“It was just the fact that we’ve been hearing about this for so long, and there’s been so much work, decades of work, to finally see something that actually worked in humans.
“It was quite spectacular and a bit aweinspiring really. It felt very special.”
Prof Bance said he believes the trial was “just the beginning of gene therapies”, adding: “It marks a new era in the treatment for deafness.”
Innovations
Professor Stephen Powis, NHS England’s national medical director, said: “This trial will transform the life of 18-month-old Opal Sandy while offering hope to many others like her, and is another example of the NHS being a global leader in developing gene therapy for patients.
“The NHS has led the world in the development of a range of other innovations and therapies, and this is a very welcome addition to the work going on with life sciences organisations around England to expand the range of treatments available.”
Opal is the first patient globally to receive the gene therapy, from biotech firm Regeneron.
The findings were presented yesterday at the American Society of Gene and Cell Therapy conference in Baltimore, US.