Deaf British girl has hearing restored in world-first trial

• The 18 month old received an infusion with the working gene to her right ear 
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A British girl has had her hearing restored after becoming the first person in the world to take part in a groundbreaking gene therapy trial.

Opal Sandy, aged 18 months, was born completely deaf due to 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 improve further.

The little girl, from Oxfordshire, who has a genetic form of auditory neuropathy, was treated at Addenbrooke’s Hospital, which is part of Cambridge University Hospitals NHS Foundation Trust.

Opal Sandy, aged 18 months, was born completely deaf due to the condition auditory neuropathy

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 noticed improvements to her hearing in just four weeks, but the results were particularly impressive 24 weeks later.

Jo Sandy, a 33-year-old secondary school geography teacher, and her husband James, 33, who works in car manufacturing, said they were ‘gobsmacked’ when they realised Opal could hear without the need for a cochlear implant.

Her parents Jo and James, both 33, (pictured) noticed improvements to her hearing in four weeks when Opal turned her head to loud clapping

Auditory neuropathy: The facts

Auditory neuropathy is caused by the disruption of nerve impulses travelling from the inner ear to the brain.

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.

Opal now loves slamming her cutlery on the table to make a noise and enjoys playing with toy drums, a piano and wooden blocks.

Professor Bance said: ‘In terms of being able to hear soft sounds (like a soft whisper), she can hear almost normal for her age.

‘Now, 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.’

He added that the treatment is ‘a one and done 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.

Regarding the success of Opal’s case, Professor Bance said: ‘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 awe-inspiring really.’

At the moment, the gold standard treatment for auditory neuropathy is cochlear implants.

Opal had one fitted to her left ear at the same time as she underwent gene therapy in her right ear, to ensure she got hearing as soon as possible.

However, according to Professor Bance, implants can have limitations such as difficulty filtering out background noise when multiple people are speaking.

The Sandy family, from Oxfordshire, have an older daughter Nora, aged five, who has the same genetic form of auditory neuropathy as Opal and wears cochlear implants

At the moment, the gold standard treatment for auditory neuropathy is cochlear implants. Opal had one fitted to her left ear at the same time as she underwent gene therapy in her right ear, to ensure she got hearing as soon as possible

Some 24 weeks after surgery, in February this year, tests in Cambridge showed Opal, pictured with her sister Nora, could also hear soft sounds such as a whisper

Mrs Sandy said: ‘Nora had her cochlear implants on both sides fitted at 15 months old and following that comes quite an intense rehabilitation process of speech and language therapy.

‘She’s done really well learning to speak and has managed to close the language gap with her peers.

‘So, hearing that Opal was deaf – of course there was a grieving process that we went through the same as when we found out that Nora was as well – but Nora had set the bar really high and we knew what was possible with lots of hard work and support from lots of people.’

The couple first heard about the CHORD gene therapy trial from the ear, nose and throat surgeon at their local John Radcliffe Hospital in Oxford.

‘Our initial reaction was we were really nervous,’ Mrs Sandy said, adding it sounded ‘too good to be true’.

She said: ‘We were quite nervous to go down a different path to one that we knew had already worked so well for our eldest daughter. But it also sounded like a really unique opportunity.

Now, even without the implant in her left ear, Opal can hear perfectly well thanks to the gene therapy.

Mrs Sandy said: ‘Without an implant, she can understand basically the same things that she can understand when it’s on, so ‘Opal, where’s your nose? ‘Where’s daddy?’ ‘Who’s at the door?’ ‘Bye bye’ …sort of basic language acquisition, that she can understand just as well with her implant on and off.’

Results from the Chord study were presented on Wednesday to the American Society of Gene and Cell Therapy conference in Baltimore in the US.

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