A young girl born deaf in the UK has achieved the ability to hear without assistance following a groundbreaking gene therapy treatment.
Opal Sandy, who underwent the treatment shortly before turning one, can now hear sounds as delicate as a whisper. She has begun to speak, uttering words like “Mama,” “Dada,” and “uh-oh.”
The therapy, administered as an infusion into her ear, targets the faulty DNA responsible for her inherited deafness.
Opal participated in a trial recruiting patients from the UK, US, and Spain. Similar treatments for the Otof gene mutation, which Opal has, are also being explored in other countries, including China.
Opal’s parents, Jo and James, from Oxfordshire, describe the results as astonishing. However, the decision to allow Opal to be the first to undergo this treatment, developed by Regeneron, was immensely challenging for them.
Her five-year-old sister, Nora, who also has the same type of deafness, manages well with an electrical cochlear implant, which provides the sensation of hearing by directly stimulating the auditory nerve.
In contrast, the gene therapy utilizes a modified virus to deliver a functional copy of the Otof gene into the affected cells.
Opal received the therapy in her right ear and underwent a cochlear implant surgery in her left ear under general anesthesia.
Within weeks, she began responding to loud sounds, such as clapping, in her right ear. After six months, doctors at Addenbrooke’s Hospital in Cambridge confirmed that Opal’s right ear had nearly normal hearing for soft sounds, including very faint whispers.
“It’s incredibly rewarding to see her react to sound,” stated chief investigator and ear surgeon Prof Manohar Bance.
The therapy’s success offers hope for treating other forms of profound hearing loss, with over half of childhood hearing loss cases having a genetic basis.
Prof Bance aims for gene therapy to become a viable option for more common types of hearing loss, potentially eliminating the need for cochlear implants and other technologies.
Early detection through genetic testing is available on the NHS for families at risk of hearing loss caused by variations in the Otof gene.
Opal’s journey, alongside data from the trial, is being presented at the American Society of Gene and Cell Therapy in Baltimore.
Martin McLean from the National Deaf Children’s Society emphasized the importance of providing families with diverse options, ensuring that deafness does not hinder a child’s happiness or fulfillment.
