In the United States, a boy who has been deaf since birth regained his hearing after benefiting from gene therapy.
- In the United States, an 11-year-old boy, who was born deaf due to an abnormality in the otoferlin gene, heard sounds for the first time in his life.
- At Children’s Hospital of Philadelphia, he underwent surgery in which gene therapy containing working copies of the OTOF gene was placed in his inner ear.
- About four months after treatment, his hearing improved and he now has only mild to moderate hearing loss.
His father’s voice, the sound of a passing car, scissors cutting his hair… For the first time in his life, 11-year-old Aissam Dam was able to hear these sounds. He was born “profoundly deaf” due to an abnormality in the gene for otoferlin (OTOF), a protein needed to convert sound vibrations into chemical signals sent to the brain. These anomalies are very rare and represent between 1 and 8% of cases of hearing loss at birth.
A gene therapy containing “functional copies of the OTOF gene” administered into the ear
On October 4, 2023, the young patient received gene therapy at Children’s Hospital of Philadelphia (CHOP). As a reminder, this treatment consists of introducing genetic material into cells to treat a disease. As part of a study, he is the first to have undergone surgery, at this health facility, during which gene therapy was placed in his inner ear.
This was done using a device, called an “endoscope”, which allows the eardrum to be partially lifted and an experimental medical device to be transiently inserted into the “round window”, a tiny entry point into the cochlea. , namely the part of the inner ear coiled into a spiral. “A single small dose of a gene therapy (AK-OTOF) containing functional copies of the OTOF gene was then administered directly into the inner ear,” can we read in the press release from the American hospital.
Deafness: the child only has mild to moderate hearing loss
Nearly four months after receiving the experimental gene therapy in one ear, the boy’s hearing had improved enough that he now had only mild to moderate hearing loss. On the other hand, the child may never be able to speak, because the part of the brain intended for acquiring speech shuts down around the age of five, according to the New York Times.
“Gene therapy for hearing loss is a goal that we, doctors and scientists in the world of hearing loss, have been pursuing for over 20 years and which has finally been achieved. If the gene therapy we applied to our patient was aimed at correcting the anomaly of a very rare gene, these studies could pave the way for future use for more than 150 other genes responsible for hearing loss in children”, said John A. Germiller, surgeon and director of clinical research in the Division of Otolaryngology at CHOP.
