A British toddler, born deaf, can now hear thanks to pioneering gene therapy administered by a team from Addenbrooke's Hospital, part of the University of Cambridge in the UK.
The toddler, Opal Sandy, is among participants from the UK, Spain and the USA in a global clinical trial begun in May 2023.
Opal is the first patient to receive gene therapy in a global trial, according to the UK’s National Health Service (NHS). She is not only the first British recipient but also the youngest to undergo such treatment.
The toddler was born with a genetic disease called auditory neuropathy – a disruption of nerve signals from the inner ear to the brain.
Around 20,000 people across the UK, Germany, France, Spain and Italy live with deafness due to an anomaly in a gene that produces otoferin. This protein is crucial for the inner ear’s hair cells to communicate with the auditory nerve.
Opal began responding to sounds within four weeks of the surgery, which involved an injection into the cochlea (part of the inner ear) under general anaesthesia. After 24 weeks, her hearing was near-normal for softer sounds, like whispers. Now, at 18 months old, she responds to her parents’ voices and can utter words like “daddy” and “goodbye.”
“When Opal could hear us clapping our hands without help, it was incredible,” recalled her mother, Jo Sandy. “We were so happy when the clinical team confirmed at 24 weeks that her hearing was also picking up softer sounds and speech.”
“These results are spectacular and better than I expected,” said trial leader Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust, which runs Addenbrooke’s.
“This is hopefully the start of a new era for gene therapies for the inner ear and many types of hearing loss,” Professor Bance added.
