An 18-month-old British girl who was born completely deaf is believed to be the youngest person to have her hearing restored after undergoing groundbreaking new gene therapy.
Several medical teams around the world, including in China and the United States, have tried similar treatments with good results for hereditary deafness, focusing on a rare genetic mutation.
But British ear surgeon Manohar Bance said the toddler, Opal, was the first person in the world to receive therapy developed by US biotech company Regeneron and “as far as we know, the youngest in the world to have been administered to date”.
Opal was treated at Addenbrooke’s Hospital in Cambridge, part of the Cambridge University Hospitals NHS Foundation Trust, in the east of England.
Bance called the results of Opal’s surgery “spectacular – so close to normal hearing recovery. So we’re hoping it could be a potential cure.”
He said it was the culmination of decades of work and marked “a new era in the treatment of deafness”.
The little girl, from Oxfordshire in south-central England, has a genetic form of auditory neuropathy, which is caused by the disruption of nerve impulses traveling from the inner ear to the brain.
Auditory neuropathy can be caused by an error in the OTOF gene, which is responsible for the production of a protein called otoferlin. This allows cells in the ear to communicate with the auditory nerve.
To correct this flaw, Regeneron’s ‘new age’ gene therapy delivers a working copy of the gene to the ear.
Bance said that after surgery last September, Opal’s hearing was now “almost normal” and further improvement was expected.
A second child received the gene therapy in Cambridge with positive results six weeks after the operation.
‘Awesome’
China has been working to target the same gene, although Bance said their gene used a different technology and a slightly different delivery method.
Medics in Philadelphia have also reported good results with a form of gene therapy in an 11-year-old boy.
Opal was the first person to take part in a gene therapy trial conducted by Bance in Cambridge.
The trial 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.
Up to 18 young people from Britain, Spain and the United States will be recruited for the trial and followed for five years.
Bance said the current treatment for auditory neuropathy was implants.
“It’s going to take ‘five more years’ in my lifetime to see gene therapy… to finally see something that actually works in humans… It’s been pretty spectacular and kind of awe-inspiring actually,” he said.
