Addenbrooke's Hospital in Cambridge he says that a world-first trial of a gene therapy to treat a form of deafness has begun, potentially heralding a revolution in the treatment of hearing loss.
18 children from the UK, Spain and the US are taking part in the research, which aims to transform the treatment of auditory neuropathy, a condition caused by the interruption of nerve impulses traveling from the inner ear to the brain. Participants will be followed for five years to assess whether their hearing improves, with the first results expected to be published next February.
Acoustic neuropathy can be caused by a variation in a single gene – also known as the OTOF gene – which produces a protein called otoferlin.
This protein normally allows the inner ear hair cells to communicate with the hearing nerve. Mutations in the OTOF gene can be detected by genetic testing. But Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust, who is leading the UK trial, said it was a condition that was often hard to spot when newborns were being screened for possible hearing problems.
“It's one of the few conditions where everything works except the transmission between the hair cells and the nerve. So everything else looks fine when you test them, but they can't hear anything. "
The new gene therapy aims to create a functional copy of the defective OTOF gene using a modified, non-pathogenic virus.
It will be granted with injection in the cochlea under general anesthesia. Bance estimates about 20.000 people in the US and five European countries countries – the United Kingdom, the Germany, France, Spain and Italy – suffer from auditory neuropathy due to OTOF mutations, highlighting the potential importance of a successful treatment.
