An 18-month-old British girl, born deaf, is believed to be the youngest individual to have regained her hearing following a revolutionary gene therapy procedure. Various medical teams worldwide, including those in China and the United States, have been experimenting with similar treatments for hereditary deafness linked to a rare genetic mutation.
According to UK ear surgeon Manohar Bance, the toddler named Opal received treatment developed by US biotech firm Regeneron, making her the first person globally to undergo this therapy and the youngest individual to receive such treatment to date. The procedure took place at Addenbrooke’s Hospital in Cambridge, part of Cambridge University Hospitals NHS Foundation Trust, located in eastern England.
Bance described the outcome of Opal’s surgery as “spectacular,” nearing the restoration of normal hearing, marking a significant advancement in the treatment of deafness. Opal, hailing from Oxfordshire in south central England, suffers from a genetic form of auditory neuropathy, which disrupts nerve impulses between the inner ear and the brain.
Auditory neuropathy often stems from a fault in the OTOF gene, responsible for producing otoferlin, a protein crucial for communication between ear cells and the hearing nerve. The innovative gene therapy from Regeneron aims to rectify this fault by introducing a functional copy of the gene into the ear.
Following the surgery in September, Opal’s hearing has improved significantly, approaching normal levels, with further enhancements anticipated. Another child in Cambridge underwent the same gene therapy, with positive outcomes observed six weeks post-surgery.
Up to 18 children from the UK, Spain, and the United States are slated to participate in the trial
While China and Philadelphia have also made strides in targeting the same gene, utilizing different technologies and delivery methods, Opal’s treatment represents a pioneering effort in the field of gene therapy trials in Cambridge, spearheaded by Bance.
The ongoing trial involves three parts, with Opal and two other deaf children receiving a low dose of gene therapy in one ear initially, followed by a separate group receiving a higher dose. Subsequently, if proven safe, more children will receive treatment in both ears simultaneously. Up to 18 children from the UK, Spain, and the United States are slated to participate in the trial, undergoing a five-year follow-up period.
Bance noted that the current treatment for auditory neuropathy typically involves implants. He expressed profound awe and satisfaction at witnessing a breakthrough in gene therapy after years of anticipation, emphasizing the significant impact on the medical field.
