“I was testing this with her implant and I didn’t realize that the implant had actually fallen out, and she started clapping really loudly. When she turned around for the first time, I couldn’t believe it.
“I thought it was a fluke or a change in the light or something that caught her attention, but I repeated it a few times. I was absolutely amazed.”
Opal, who had surgery at Addenbrooke’s Hospital in Cambridge, is one of 18 children who will be enrolled in the trial, which is being carried out in the UK, US and Spain.
While Opal received a low dose in one ear, others will receive higher doses in the other ear, before some children receive the treatment in both ears, as there is more evidence that it is safe.
Professor Manohar Bance, an ENT surgeon at Cambridge University Hospitals NHS Foundation Trust, which runs Addebnbrooke’s, and the study’s chief investigator, said the results were “better than I expected or expected” after 24 weeks.
‘We hope it could be a potential cure’
“We have results from [Opal] which are very spectacular – so close to normal hearing restoration. So we hope it could be a potential cure.
“In terms of her ability to hear soft sounds (like a soft whisper), she can hear almost normally for her age,” he said. “We don’t know if she can understand speech in the same way because she is so young, but she can certainly respond to soft sounds.”
A second child also received gene therapy treatment at Cambridge University Hospitals, with positive results seen recently six weeks after surgery, while other gene therapies for deafness are being tested in China and the US.
Professor Bance estimates that around 20,000 people in the US, Germany, France, Italy, Spain and the UK have auditory neuropathy due to OTOF mutations.
Martin McLean, senior policy adviser at the National Society for Deaf Children, said: “This trial will teach us more about the effectiveness of gene therapy in cases where deafness has a specific genetic cause.
“We would like to emphasize that, with the right support from the start, deafness should never be a barrier to happiness or fulfillment.”
Sisters ‘compete to make the most noise’
Sandy said Opal started talking in the last six weeks and now both daughters like to “see who makes the most noise.”
“She’s good at all the common first baby words, so ‘daddy’ is a favorite, ‘uh oh,’ ‘bye, bye,’” she said.
“I always said I would never get annoyed by them making noise and I get annoyed by them making noise,” Ms. Sandy joked.
“Opal loves playing with her little set of musical instruments…playing the drums, playing her little piano, banging on some of her wooden blocks and things like that.
“Nora recently started liking music and (Opal) likes to raise her arms and do little dances in the kitchen.
“So they like to dance together. Nora likes to read to her, they like to fight, they like to jump off the couch.”
The results of the Chord study were presented on Wednesday at the American Society for Gene and Cell Therapy conference in Baltimore, USA.
