Cambridge University Trial Yields Miraculous Results: Toddler Hears for the First Time

Gene Therapy Restores Hearing in Toddler
Gene Therapy Restores Hearing in Toddler. Credit | rawpixel

United States – Opal, an individual without the gift of hearing, was born straight into a world where she could not hear.

The British baby girl, who is now 18 months old, had a rare genetic condition called auditory neuropathy that prevents the nerve impulses that travel from the inner ear to the brain. She had been previously implanted with an ear device, but it still had limitations, as reported by Associated Press.

Next, a group from Cambridge University Hospitals conducted a gene therapy trial in England, which allowed little Opal to hear the world, where she could sense joy.

When Opal was rowdy for the first time, and she could first hear us clapping unaided, it was mind-blowing.  She was so happy that her hearing was picking up soft sounds and speech, her mother, Jo Sandy, said in a hospital news release. The phrase ‘near normal’ hearing was used, and everyone was so happy that these amazing results had been achieved.

Opal is the first kid in the UK and the youngest globally to be administered with the experimental therapy.

Remarkable Results Exceed Expectations

“These results are truly amazing and even better than I expected,” said Dr.  Manohar Bance, an ear surgeon at the hospital and the chief investigator of the new trial. Gene therapy is something otologists and audiologists are really been anticipating to be the future, so I’m absolutely thrilled that it is finally here. This is probably the initial phase of a new epoch of gene therapy for the ear and a broad spectrum of hearing disorders.

They showed their results on Wednesday at the American Society of Gene and Cell Therapy annual meeting in Baltimore.

According to scientists, the problem occurs as a result of a defect in a gene named OTOF that carries instructions for producing a protein called otoferlin. The inner ear’s minuscule hairs need otoferlin to let signals reach the nerves responsible for hearing to be transmitted.

The gene deficiency that causes auditory neuropathy is usually not detected in newborn screenings, so children with the condition are not diagnosed until the age of 2 or 3, when the speech delay has already set in.

We need to act quickly, as the rate at which the brain develops is high at this age, and hence, time can be very scarce, Bance said in the news release. Late diagnosis could also be perplexing for families as there are many reasons why speech can be delayed, and intervention is still late, which could affect a child’s development.

Opal’s parents were aware that their daughter was at risk for auditory neuropathy as her older sister had already developed the condition. The results of the gene test, which were obtained when Opal was just three days old, confirmed that she also carried the variant.

Impact of Therapy on Opal’s Development

The gene therapy Opal underwent included the implantation in her right ear of a healthy OTOF copy gene during surgery into the cochlea through the harmless virus AAV1. The baby girl also had a cochlear implant in her left ear.

According to her parents and doctors, the results had already made a significant impact in the span of half a year. Opal demonstrated that she could differentiate tones even with the battery of the left cochlear implant off. She could even hear the whispers in her right ear that had been treated.

At 18 months, it gets easy for Opal to pick her daddy’s voice and develop words like “Dada” and “bye-bye.”

“It was our ultimate goal for Opal to hear all the speech sounds,” said her father, James Sandy. “It’s already making a difference in our day-to-day lives, like at bath time or swimming, when Opal can’t wear her cochlear implant. We feel so proud to have contributed to such pivotal findings, which will hopefully help other children like Opal and their families in the future.”

The global study continues, and it will not surprise us if gene therapy has the power to change the treatment of hearing loss completely, as reported by the Associated Press.

Positive Reception

“Many families will welcome these developments, and we look forward to learning about the long-term outcomes for the children treated,” Martin McLean, senior policy advisor at the National Deaf Children’s Society in Britain, said in the hospital news release. “This trial will teach us more about the effectiveness of gene therapy in those cases where deafness has a specific genetic cause.”