A toddler from Britain who was born deaf due to a genetic condition can now hear in one ear thanks to a new and innovative gene therapy treatment.
The case was presented at the annual meeting of the American Society of Gene & Cell Therapy which is happening this week in Baltimore, MD. The 18-month-old girl, Opal Sandy from Oxfordshire, received an experimental treatment for auditory neuropathy, a condition that stems from a mutation in a gene called Biallelic otoferlin gene (OTOF), as part of an ongoing clinical trial. The mutation leads to improper development of small hairs in the cochlea, impacting the ability to magnify and convert sound waves into signals for the brain. This results in what the case description refers to as “severe-to-profound sensorineural hearing loss.”.
As the BBC reportsUntil now, cochlear implants have been used to treat this type of hearing loss. Opal's older sister Nora also has the genetic mutation and has implants in both ears, while Opal herself has one in the ear that didn’t receive the new treatment. While implants bypass the damaged areas to send sound directly to the auditory nerve, the new treatment seeks to repair the damage by fixing the faulty gene, thus prompting the growth of functional hairs. This is achieved by placing the healthy gene into an otherwise inactive virus—a dual adeno-associated virus (AAV1) vector designed for intracochlear delivery of a full-length copy of the human OTOF gene. This virus, known as DB-OTO, is injected into the cochlea and helps to replace the faulty gene with the healthy one. After the successful trial of a similar treatment in mice back in 2017, scientists predicted that the technique could be extended to humans “in the near future.” Opal’s case is the first attempt at doing so, and so far, it seems to be a success. She received the treatment at 10 months of age, and according to the case description, “twelve weeks after treatment [Opal] did not have any side effects related to the treatment, and improvements in hearing were reported in the treated ear.” More than six months later, her hearing has significantly improved: “[Opal] can hear sounds as soft as a whisper and is starting to talk.” While the case report describes the results as “encouraging,”
The Guardian spoke to the girl’s mother , who summed up the improvement rather more charmingly: “Bonkers.” However, it's not all positive, as Opal's newfound hearing has apparently led to the development of a new hobby: “Slamming cutlery on the table to make as much noise as possible.”
The BBC reported on She ‘can hear sounds as soft as a whisper and is starting to talk.’ that study predicted that the technique could be extended to humans “in the near future.” Opal’s case is the first attempt at doing so, and so far, it seems to be a success. She received the treatment at 10 months of age, and as the case description reports, “twelve weeks after treatment [Opal] did not have any side effects related to the treatment, and improvements in hearing were reported in the treated ear.” Now, more than six months later, her hearing has gone from strength to strength: “[Opal] can hear sounds as soft as a whisper and is starting to talk.”
While the case report describes the results as “encouraging,” The Guardian spoke to the girl’s mother, who summed the improvement up rather more charmingly: “Bonkers.” It’s not all sweetness and light, though, because Opal’s newfound hearing has apparently led to the development of a new hobby: “Slamming cutlery on the table to make as much noise as possible.”
