A pioneering gene therapy trial has resulted in the restoration of hearing for a British girl, marking a groundbreaking milestone in medical science.
Opal Sandy, just 18 months old, was born deaf due to auditory neuropathy, a condition characterized by disrupted nerve impulses between the inner ear and the brain. However, thanks to a revolutionary “one and done” gene therapy trial, Opal’s hearing has been nearly restored, with the potential for further improvement.
Hailing from Oxfordshire, Opal received treatment at Addenbrooke’s Hospital, part of Cambridge University Hospitals NHS Foundation Trust. Professor Manohar Bance, an ear surgeon and chief investigator for the trial, expressed astonishment at the results, describing Opal’s progress as “better than expected” and possibly indicative of a cure for individuals with this form of deafness.
The gene therapy, developed by biotech firm Regeneron, addresses faults in the OTOF gene responsible for producing the otoferlin protein essential for communication between ear cells and the hearing nerve. By delivering a functional copy of the gene to the ear, this “new era” treatment aims to correct the underlying genetic anomaly.
Opal underwent surgery last September, during which she received an infusion containing the functioning gene in her right ear. Remarkably, within four weeks, improvements in Opal’s hearing were evident, as evidenced by her response to loud clapping.
Further assessments in February this year revealed Opal’s ability to perceive soft sounds, such as whispers, marking a significant milestone in her auditory journey. Her parents, Jo and James, expressed profound amazement at their daughter’s progress, noting her increased responsiveness to everyday sounds.
Opal’s case represents a landmark achievement in the realm of gene therapy, offering hope to individuals with genetic-related hearing conditions. While the treatment is currently not available through the NHS, advancements in genetic testing for hearing loss signal a promising future for individuals like Opal.
As medical science continues to evolve, gene therapy holds immense potential in addressing various genetic disorders, paving the way for enhanced treatments and improved outcomes. Opal’s story underscores the transformative impact of innovative medical interventions and heralds a new era in the quest for effective treatments for hearing impairment.
