A groundbreaking gene therapy treatment has enabled a young British child, who was born with a genetic condition causing deafness, to regain hearing in one ear.
The American Society of Gene & Cell Therapy’s annual meeting, happening this week in Baltimore, MD, featured a reported case. Opal Sandy, an 18-month-old girl from Oxfordshire, underwent an experimental treatment for auditory neuropathy, a condition caused by a mutation in the Biallelic otoferlin gene (OTOF). This treatment was administered as part of an ongoing clinical trial.
According to the BBC, the mutation leads to the improper growth of small hairs in the cochlea, which are essential for amplifying sound waves and converting them into signals that can be transmitted to the brain. This ultimately causes a condition known as “severe-to-profound sensorineural hearing loss,” as described in the case report.
In the past, cochlear implants were the primary treatment for this type of hearing loss. Opal’s older sister, Nora, who also has the same genetic mutation, has cochlear implants in both ears. Opal herself has one in the ear that didn’t receive the new treatment. These implants work by bypassing the damaged areas and directly stimulating the auditory nerve to transmit sound. However, the new treatment aims to repair the damage instead of bypassing it. It does this by targeting the faulty gene responsible for the hearing loss and promoting the growth of functional hair cells. The process involves inserting a healthy gene into a specially designed virus called DB-OTO, which is injected into the cochlea. This virus facilitates the replacement of the faulty gene with the healthy one, potentially restoring hearing function.
In 2017, the BBC reported on the successful trial of a similar treatment in mice. At that time, the scientists behind the study expressed optimism that the technique could soon be applied to humans. Opal’s case marks the first attempt to do so, and it appears to be a success. Opal received the treatment when she was 10 months old. According to the case description, twelve weeks after the treatment, Opal did not experience any side effects related to the treatment. Additionally, improvements in hearing were observed in the treated ear. Now, more than six months later, Opal’s hearing has continued to improve. She can now hear sounds as soft as a whisper and is even starting to talk.
While the case report refers to the results as “encouraging,” the girl’s mother had a more delightful way of summarizing the improvement: “Bonkers.” However, it’s not all smooth sailing, as Opal’s newly found hearing has led to a rather noisy hobby of slamming cutlery on the table to make as much noise as possible, according to her mother’s account to The Guardian.
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