A little British girl born deaf can now hear thanks to gene therapy. France has also launched a clinical trial of gene therapy for children with hereditary deafness.
“When Opal was able, without help, to hear us clap our hands, 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, said the NHS, the British public health service, in a press release published this Thursday, May 9. Opal can now hear sounds in one of her ears without a hearing aid. What is this therapy that is developing around the world?
Genetics involved in certain deafness
In France, permanent neonatal deafness affects approximately one in 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”. “Nearly 130 genes involved have already been identified: their mutation causes abnormalities in the hearing system which lead to the deficit,” adds the medical research institute on its site.
According to the NHS, around 20,000 people in the United Kingdom, Germany, France, Spain and Italy, for example, suffer from deafness due to an abnormality in a gene that produces otoferin, a protein necessary for hair cells in the body. the inner ear to 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 a matter of “bringing, into the ear, this small missing protein and finally, in cascade, the entire function of the inner ear will be restored to normal”, explains to BFMTV Natalie Loundon, pediatric ENT and director of the Pediatric Audiology Research Center at the Necker-Enfants Malades hospital, in Paris.
Opal was 11 months old when she had her operation, an injection into the cochlea (part of the inner ear) in her right ear under general anaesthetic, at Addenbrooke’s Hospital in Cambridge. Within four weeks of the procedure, she was responding to sounds. After 24 weeks, his hearing was almost normal for soft sounds, such as whispers. Now 18 months old, the little girl responds to her parents’ voices and can say words like “daddy” or “goodbye.”
“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,” welcomes from BFMTV Natalie Loundon, who coordinates the Audiogene study.
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 which brings together teams from the Pasteur Institute, the Necker- Sick Children, from the biotechnology company Sensorion and the Fondation Pour l’Audition.
Other trials around the world
This type of testing is developing throughout the world. Earlier this year, Children’s Hospital of Philadelphia announced that an 11-year-old boy “born profoundly deaf” was hearing “for the first time in his life” after gene therapy and four months after surgery. The child now only has mild to moderate 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.
Caroline Dieudonné with Sophie Cazaux
