World-First Trial of Gene Therapy To Cure Form of Deafness Begins

An anonymous reader quotes a report from the Financial Times: A world-first trial of a gene therapy to cure a form of deafness has begun, potentially heralding a revolution in the treatment of hearing loss. Up to 18 children from the UK, Spain and the US are being recruited to the study, which aims to transform treatment of auditory neuropathy, a condition caused by the disruption of nerve impulses traveling from the inner ear to the brain. Participants will be monitored for five years to gauge whether their hearing improves, with initial results expected to be published next February.

Auditory neuropathy can be due to a variation in a single gene — known as the OTOF gene — which produces a protein called otoferlin. This protein typically allows the inner hair cells in the ear to communicate with the hearing nerve. Mutations in the OTOF gene can be identified by genetic testing. However, [Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust who is leading the trial in the UK] said it was a condition often missed when newborn babies were screened for potential hearing problems. “This is 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 it, but they can’t hear anything. So these poor kids’ [difficulties] end up being missed,” Bance added.

The new gene therapy aims to deliver a working copy of the faulty OTOF gene using a modified, non-pathogenic virus. It will be delivered via an injection into the cochlea under general anaesthetic. Bance estimates that about 20,000 people across the US and five European countries — the UK, Germany, France, Spain and Italy — have auditory neuropathy due to OTOF mutations, underlining the potential significance of a successful treatment.[…] “If it works, it’s ‘one and done'” but the cost to health systems “is something that worries me,” he added, noting that gene therapies could be priced in “the million dollar range” per patient. However, he hoped that “economies of scale” as the technology developed further would ultimately allow them to be provided more cheaply.