British toddler has recovered hearing in world’s first gene therapy trial
A British toddler has had her hearing restored after becoming the first person in the world to take part in a groundbreaking gene therapy trial, a development doctors say marks a new era in the treatment of deafness.
Opal Sandy was born without the ability to hear due to auditory neuropathy, a condition that disrupts the nerve impulses that travel from the inner ear to the brain and can be caused by a defective gene.
But after being given an infusion of a working copy of the gene in a groundbreaking operation that took just 16 minutes, the 18-month-old can hear almost perfectly and enjoys playing with toy drums.
Her parents were ‘stunned’ when they realized she could hear for the first time after the treatment. “I couldn’t really believe it,” said Opal’s mother, Jo Sandy. “It was… crazy.”
The girl, from Oxfordshire, was treated at Addenbrooke Hospital, part of the Cambridge University Hospitals NHS Foundation Trust, which runs the organisation. Agree test. More deaf children from Britain, Spain and the US are being recruited for the trial and will all be followed for five years.
Prof. Manohar Bance, an ear surgeon at the trust and lead researcher on the study, said the initial results were “better than I had hoped or expected” and could cure patients with this type of deafness.
“We have results from (Opal) that are very spectacular – so close to normal hearing recovery. So we hope that it can be a possible cure.”
He added: “So much work has been done, decades of work… to finally see something that actually works in people…. It was quite spectacular and actually a bit awe-inspiring. It felt very special.”
Auditory neuropathy can be caused by an error in the OTOF gene, which produces a protein called otoferlin. This allows cells in the ear to communicate with the auditory nerve. To correct this error, the new therapy from biotech company Regeneron sends a working copy of the gene to the ear.
A second child has also recently undergone the gene therapy treatment at Cambridge University Hospitals, with positive results.
The overall Chord study consists of three parts, in which three deaf children, including Opal, will receive a low dose of gene therapy in only one ear.
Another set of three children receive a high dose on one side. If this proves to be safe, more children will receive a dose in both ears at the same time. A total of 18 children worldwide will be recruited for the trial.
Opal is the first patient worldwide to receive the therapy and is “as far as we know, the youngest in the world to have been administered to date,” Bance said.
The gene therapy – DB-OTO – is specific for children with OTOF mutations. A harmless virus is used to introduce the working gene into the patient.
The trial is “just the beginning of gene therapies,” Bance said. “It marks a new era in the treatment of deafness.”
Martin McLean, a senior policy advisor at the National Deaf Children’s Society, said deafness should never be a barrier to happiness or fulfillment. “Many families will welcome these developments, and we look forward to learning about the long-term outcomes for the children treated.”
With Opal’s hearing restored, her parents now face a new problem: their daughter’s new favorite hobby is throwing cutlery on the table to make as much noise as possible.