A baby who was born deaf can now hear after being given a pioneering gene therapy in the UK.
Opal Sandy from Oxfordshire is the first patient to be treated in a global gene therapy trial, which shows “mind-blowing” results according to doctors.
Now 18 months old, Opal was the first British patient and the youngest child to have the treatment, at Addenbrookes Hospital in Cambridge.
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Opal’s mother, Jo, said the result is “mind-blowing”.
”When Opal could first hear us clapping unaided it was mind-blowing – we were so happy when the clinical team confirmed at 24 weeks that her hearing was also picking up softer sounds and speech,” she said in a statement released by the hospital.
“The phrase ‘near normal’ hearing was used and everyone was so excited such amazing results had been achieved.”
Her father, James Sandy, said it has made a real difference to their lives.
“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,” he said.
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Opal was born completely deaf because of a rare genetic condition called auditory neuropathy.
It’s caused by the disruption of nerve impulses travelling from the inner ear to the brain.
The CHORD trial, which started in May 2023, aims to show whether gene therapy can provide hearing for children born with auditory neuropathy.
Opal was given an infusion containing a harmless virus.
It delivers a working copy of the OTOF gene and is delivered via an injection in the cochlea during surgery under general anaesthesia.
During surgery, while Opal was given the gene therapy in right ear, a cochlear implant was fitted in her left ear.
Within four weeks of having the gene therapy infusion to her right ear, Opal responded to sound, even with the cochlear implant in her left ear switched off, the hospital said.
Clinicians noticed continuous improvement in Opal’s hearing in the weeks afterwards and at 24 weeks confirmed close to normal hearing levels for soft sounds, such as whispering, in her treated ear.
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Now 18 months old, Opal can respond to her parents’ voices and can communicate words such as “da da” and “bye-bye.”
Auditory neuropathy can be due to a variation in a single gene, known as the OTOF gene, the hospital said.
The gene produces a protein called otoferlin, needed to allow the inner hair cells in the ear to communicate with the hearing nerve.
Around 20,000 people across the UK, Germany, France, Spain, Italy and UK and are deaf due to a mutation in the OTOF gene, the hospital said.
Medics have called the results “spectacular”.
“These results are spectacular and better than I expected, Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust and chief investigator of the trial, 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.”
