Auditory neuropathy, a condition that impairs the passage of nerve impulses from the inner ear to the brain, was preventing a British toddler named Opal Sandy from hearing. However, the 18-month-old toddler, after being the world’s first participant in an innovative gene therapy trial, regained her hearing. This medical milestone, which involved a 16-minute surgical procedure during which a functioning gene copy was inserted via an infusion, is being hailed as a paradigm shift in deafness treatment.
Opal, born with aural disabilities, can now hear nearly flawlessly. This has delighted her parents, who were astounded to discover post-treatment that their daughter could hear for the first time. While they rejoiced in Opal’s recovered hearing, they also grappled with the new challenge of her newfound love for creating a cacophony by hammering cutlery on the table.
The gene therapy trial dubbed ‘the Chord Trial’, conducted at Addenbrooke’s hospital, a branch of Cambridge University Hospitals NHS foundation trust in Oxfordshire, is set to include more deaf children from the UK, Spain and the US. These participants will be observed over a five-year period.
The chief investigator of the trial and ear surgeon at the trust, Prof Manohar Bance, claimed that the preliminary results had exceeded his anticipations and beliefs. The trial has the potential to eradicate this specific form of deafness, given the impressive results yielded from Opal’s case.
Auditory neuropathy is caused by a defect in the OTOF gene, responsible for the production of the protein otoferlin, which facilitates cellular communication in the ear with the hearing nerve. The innovative treatment developed by biotech company, Regeneron, resolves this by delivering a correct gene version to the ear. Encouragingly, another child who received this treatment at Cambridge University Hospitals has also shown positive results.
The comprehensive Chord experiment comprises three segments, during which three hearing-impaired children, Opal among them, will be administered a minimal amount of gene therapy in one ear. A distinct group consisting of three children will receive an increased dosage in one ear. Assuming this process proves safe, a greater number of children will then receive therapy in both ears simultaneously. The experiment plans to involve a total of 18 children from around the world.
Opal is the pioneer recipient of the treatment on a worldwide scale and, according to Bance, is also the most youthful recipient known globally. The gene therapy, named DB-OTO, is particularly designed for children suffering from OTOF mutations. A benign virus is employed to transport the functional gene into a child.
Bance asserts that the trial signifies just the inception of gene therapies and ushers in a fresh epoch in the treatment norms for deafness. – Guardian