A British tot is finally able to hear after being the first in the world to trial a new gene therapy.
Opal Sandy is an 18-month-old who was born completely deaf due to a disruption of nerve impulses travelling from the inner ear to her brain.
The condition is known as auditory neuropathy and in Opal’s case, it’s genetic.
But thanks to a UK and worldwide trial, Opal’s hearing is almost back to normal after treatment at the Addenbrooke’s Hospital.
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Professor Manohar Bance, an ear surgeon at the trust and chief investigator for the trial, told PA news agency: “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.”
The condition can be caused by a fault in the OTOF gene, which makes protein called otoferlin. This protein allows cells in the ear to communicate with the hearing nerve.
The new therapy delivers a working copy of the gene to the ear, using a modified, harmless virus.
Opal received an infusion containing the working gene to her right ear during surgery in September of last year and her parents, Jo and James, couldn’t be happier.
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Shockingly, they noticed a difference in 4 weeks when they clapped and Opal turned towards the sound.
Jo told PA News: “When she first turned, I couldn’t believe it. 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.”
24 weeks after surgery, tests in Cambridge showed Opal could also hear soft sounds like whispers.
Jo explained: “The audiologist played back some of the sounds that she was responding to and they were ridiculously quiet sort of sounds that in the real world wouldn’t catch your attention during a conversation.
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“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’s cut short.
“She’s definitely responding more to sort of what we would call functional sounds rather than just sounds that we use to test her.
“We were told she had near normal hearing last time – I think they got responses at sort of 25 to 30 decibels.
“I think normal hearing is classed at 20 decibels, so she’s not far off. Before, she had no hearing whatsoever.”
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Prof Bance said Opal’s hearing is now ‘close to normal’ and he hopes he’ll see that result in her next testing.
Opal’s surgery meant that she was under general anaesthetic and involved opening the ‘inner ear and we infuse the treatment’ using a catheter.
Similar to a cochlear implant surgery, the ear specialist said that now that the NHS pays for this type of therapy, it has really helped to further their efforts.
Let’s hope Opal’s next test goes well!
Britt Jones