Opal Sandy was born deaf as a result of auditory neuropathy, a condition that disrupts the way sound is conveyed to the brain from the inner ear. But at 18 months, the UK toddler can now “hear almost perfectly after groundbreaking surgery that took just 16 minutes,” the Guardian reports. Auditory neuropathy can be caused by a fault in the OTOF gene, which emits a protein that enables cells to communicate with the auditory nerve that connects the inner ear (cochlea) to the brain. Opal became the first person to take part in a new gene therapy trial just before her first birthday. She received an infusion containing a working copy of the gene in her right ear and a cochlear implant in her left, the BBC reports.
The initial results are “better than I hoped or expected,” showing “a potential cure” for deafness caused by OTOF mutations, says Dr. Manohar Bance, one of the UK’s leading otologists and chief investigator for the trial, per the Guardian. With Opal, the results are “very spectacular—so close to normal hearing restoration,” he adds. The toddler began responding to sounds within three weeks of the injection. She now “has functional hearing in her treated right ear and no longer requires the use of a cochlear implant in her left,” per Newsweek. Her “gobsmacked” parents, meanwhile, have to contend with her making as much noise as possible, the Guardian reports.
Positive results have also been seen in a second child who’s undergone the same therapy, known as DB-OTO. “It was quite spectacular and a bit awe-inspiring really,” says Bance. Officials are recruiting more deaf children in the UK, Spain, and the US to take part in the CHORD trial, sponsored by US biotech company Regeneron, to include 18 children total. All participants will be monitored for five years. Opal received only a low dose of gene therapy. Two other children will receive the same dose in one ear, while three children will receive a higher dose. If all goes well, other children will receive doses in both ears. Bance notes the trial is “just the beginning of gene therapies,” which could potentially treat or cure a variety of diseases. (More gene therapy stories.)
Read More: She Was Born Deaf. Then a ‘Spectacular’ Turnaround
