“When Opal was able, without help, to hear us clap, it was incredible.” Jo’s daughter Sandy, now 18 months old, was born completely deaf due to a genetic condition, auditory neuropathy, caused by a disruption of nerve signals from the inner ear to the brain.
The little girl was the first patient in a global gene therapy trial, the NHS, the British public health service, reported in a press release published this Thursday, May 9. Opal can now hear sounds in one of her ears without her hearing aid. What is this therapy that is being developed around the world?
Genetics involved in certain deafness
In France, permanent neonatal deafness affects approximately one in every 1,000 births, according to Public Health France. This is the most common sensory deficit.
According to Inserm, “the majority of neonatal deafness is of genetic origin.” “About 130 genes involved have already been identified: their mutation causes anomalies in the auditory system that cause deficits,” adds the medical research institute on its site.
According to the NHS, around 20,000 people in the UK, Germany, France, Spain and Italy, for example, suffer from deafness due to an abnormality in a gene that produces otopherin, a protein necessary for human hair cells to function in the body. inner ear. communicate with the auditory nerve.
Gene therapy tested in France
Hence the interest in gene therapy, which consists of introducing genetic material into cells to treat a disease. Applied to a hearing disorder, it is about “bringing this small missing protein to the ear and finally, in a cascade, all the function of the inner ear will return to normal,” Natalie Loundon, a pediatric otolaryngologist, explains to BFMTV. and director of the Pediatric Audiology Research Center at the Necker-Enfants Malades hospital in Paris.
Opal was 11 months old when she had the operation, an injection into the cochlea (part of the inner ear) in her right ear under general anaesthetic, at Addenbrooke’s Hospital in Cambridge. Four weeks after the procedure, she was responding to sounds. After 24 weeks, her hearing was almost normal for soft sounds, like whispers. Now, at 18 months old, the little girl responds to her parents’ voices and can say words like “dad” or “bye-bye.”
“This therapeutic trial is the first step towards a revolution in the treatment of patients with a hearing disorder, and we hope in the future to be able to develop the same type of therapy but in other causes of deafness,” says Natalie Loundon from BFMTV, who coordinates the Audiogene studio.
This study is the first clinical trial in France of a gene therapy drug for hereditary deafness in children, announced in January and developed by a French consortium that brings together teams from the Pasteur Institute, Necker-Sick Children, the biotechnology company Sensorion and the Pour l’Audition Foundation.
Other trials around the world
This type of testing is being developed around the world. Earlier this year, Children’s Hospital of Philadelphia announced that an 11-year-old boy “who was born profoundly deaf” was hearing “for the first time in his life” after gene therapy and four months after surgery. The child now has only mild to moderate hearing. hearing loss.
A study published earlier this year in the medical journal The Lancet revealed that a similar treatment administered in China to six deaf children allowed five of them to regain their hearing.
Source: BFM TV
