A toddler from Britain restored his hearing. He is the first person in the world to take part in a pioneering gene therapy trial, in a development which doctors say marks a new era in the treatment of deafness.
Opal Sandy was born unable to hear anything 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 faulty gene.
But he received an injection containing a working copy of the gene during a ground-breaking surgery that lasted just 16 minutes. Since then 18-month-old Opal Sandy has almost perfect hearing and loves playing drums.
The girl, from Oxfordshire, was treated at Addenbrooke's Hospital, part of Cambridge University Hospitals NHS Trust, which conducts the Chord test (CHORD Clinical Trial). More deaf children from the UK, Spain and the US are currently being tested and all will be followed for five years.
Auditory neuropathy can be caused by an error in the OTOF gene, which produces a protein called otoferlin. This allows the ear cells to communicate with the auditory nerve.
To overcome the error, the new treatment from biotech company Regeneron sends a functional copy of the gene into the ear. A second child also recently received the gene therapy at Cambridge University Hospitals, with very positive results.
The trial consists of three parts, with three deaf children, including Opal, receiving a low dose of gene therapy in one ear only.
Three other children received a high dose on one side.
Then the whole process should be proven to be safe. Then more children will receive a dose in both ears at the same time. In total, 18 children around the world will perform the tests.
The gene therapy – DB-OTO – is specially designed for children with OTOF mutations and uses a harmless virus to transfer the functional gene to the patient.
