An 18-month-old girl from Oxfordshire, who was born deaf due to a rare genetic condition, can reportedly “hear unaided” due to a gene therapy infusion – in a scientific development which has sparked fears around the future of Deaf culture, sign languages and the Deaf community.
Opal Sandy’s deafness was caused by a condition known as auditory neuropathy – where nerve impulses travelling from the inner ear to the brain are disrupted – which can occur due to a mutation in the OTOF gene.
The gene produces the protein otoferlin, which helps hair cells in the inner ear communicate with the auditory nerves, and while children with the gene variation often pass the newborn hearing screening test for babies as a result of their working hair cells, said cells do not communicate with the auditory nerve.
It means detection commonly occurs when the child is two or three years old – at which point speech delays may be identified.
However, after Opal received gene therapy in her right ear at 11 months (at which point she also had a cochlear implant fitted in her left ear), scientists noted the toddler was responding to sounds both with and without her cochlear implant turned on.
At 21 weeks, it was reported Opal had “close to normal hearing levels” for whispers and other soft sounds in her right ear. Now 18 months’ old, the toddler can respond to her parents’ voices and say words such as “Dada” and “bye-bye”.
Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust (CUH) and the trial’s chief investigator, described the results as “spectacular” and “better than I expected”.
He said: “Gene therapy has been the future in otology and audiology for many years and I’m so excited that it is now finally here.
“This is hopefully the start of a new era for gene therapies for the inner ear and many types of hearing loss.”
James Sandy, Opal’s father, added: “It was our ultimate goal for Opal to hear all the speech sounds.
“It’s already making a difference to our day-to-day lives, like at bath-time or swimming, when Opal can’t wear her cochlear implant.
“We feel so proud to have contributed to such pivotal findings, which will hopefully help other children like Opal and their families in the future.”
The news was shared on Thursday, in the middle of this year’s Deaf Awareness Week.
How does the gene therapy work?
It involves the injection of a single-stranded DNA virus known as an adeno-associated virus (AAV1) into the snail shell-like cochlear in the ear, as part of a surgical procedure carried out under anaesthesia.
The virus, which is harmless, contains a working version of the OTOF gene which is delivered to the body.
It’s not the first study of this kind
While CUH claims Opal is “the first British patient in the world and the youngest child” to receive gene therapy via the injection of an AAV1, a research paper was published in The Lancet in January in which Chinese researchers reported five children had achieved “hearing recovery” after receiving AAV1 injections, and said the form of gene therapy was a “safe and efficacious […] novel treatment for children with autosomal recessive deafness 9”.
This is despite 48 adverse events being reported across the six children involved in the study, with 46 labelled as grade one or two (side effects which are – respectively – mild and typically not bothersome, and which are bothersome with a potential impact on daily activities, but not dangerous) and two classified as being ‘grade three’ (side effects which are serious, interfere with basic tasks and may require medical intervention).
The two grade three events – concerning a decrease in the number of white blood cells known as neutrophil – were both recorded in the same participant, but researchers said the issues surrounding this were “resolved spontaneously”.
A detailed breakdown of Opal’s circumstances and data – including any adverse events – is yet to be published.
The community concerns
In a post to Instagram, Deaf actor and Strictly Come Dancing winner Rose Ayling-Ellis said she was “terrified and heartbroken” when she first read the news.
“It feel[s] like the end […] Imagine a world where everyone is ‘normal’. What will become of our story, our culture, language, and identity? Will we be the last deaf generation and end up in a museum somewhere?
“Who assumes that we want to be ‘fixed’? Where will they draw the line?
“A cure is defined as ‘relieving a person of the symptoms of a disease or condition’. My deafness is not a disease or a condition; I don’t need relief from it,” she said.
Deaf twins Hermon and Heroda Barhane, who run the ‘Being Her’ Instagram account, commented: “Trying to ‘cure’ deafness is just not right. Deaf culture is amazing and full of life, not something to get rid of!
“The best way is to be bilingual, using both spoken language and sign language.
“We don’t want to lose who we are! It motivated us to push the barriers and educate people – and again, you made the barrier, neglecting us.”
What deaf charities have said
The National Deaf Children’s Society is quoted in the CUH press release, with senior policy adviser Martin McLean saying: “Many families will welcome these developments, and we look forward to learning about the long-term outcomes for the children treated.
“This trial will teach us more about the effectiveness of gene therapy in those cases where deafness has a specific genetic cause.”
In a statement issued when the trial was first announced in October, the Royal National Institute for Deaf people (RNID) said it was “committed to a future where effective treatments for hearing loss are available for those who need and want them”.
The charity’s director of research and insight, Ralph Holme, said: “Gene therapies have the potential to offer long lasting and permanent treatments for hearing loss, rather than merely managing the symptoms as hearing aids do.
“We welcome this pioneering trial, which we hope will lead to a treatment for children with OTOF related hearing loss and pave the way towards treatments for other genetic conditions.”
A dissenting view was issued by the British Deaf Association on Thursday evening, which said the Deaf community is being “put at risk” by the trial.
The press release reads: “There must be a detailed and comprehensive discussion of the implications of medical interventions such as gene therapy before this type of procedure is approved for widespread use.
“Wherever Deafness is concerned, the Deaf community – of which the BDA is the Deaf-led representative member organisation, recognised by international authorities such as the World Federation of the Deaf and the European Union of the Deaf – must be central in this conversation.”
What’s next?
The CHORD trial comprises three stages – the first being a low dose delivered to one ear (as in Opal’s case); the second being a higher dose in the same ear once the safety of the initial dose has been ascertained; and the final phase being gene therapy in both ears – again, once effectiveness and safety has been proven.
Individuals enrolled in the trial will have follow-up appointments for a five-year period.
Scientific data from the Cambridge study has not been made public, with the statistics set to be presented at the American Society of Gene and Cell Therapy in Baltimore later this week.
Liam O'Dell 
The reaction as usual is way over the top. It is not the end of the world – for many it may be the beginning. I wish we’d had that news.
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There is a lot of different perspectives to this issue, and I don’t dispute the fact that there will be some deaf/hard of hearing people out there who would take such a treatment if it’s safe and more readily available, but equally, I don’t think people’s concerns are misplaced. I can understand why they are apprehensive when early results show this could eradicate a person’s deafness, and of course, with that, the potential to enhance and maintain Deaf culture, sign languages etc.
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