Aissam Dam, 11 years old, son of a Moroccan family who emigrated to Barcelona, has recovered his hearing thanks to a gene therapy experimented in the United States. The researchers responsible for the clinical trial, carried out at the Children’s Hospital of Philadelphia, did not guarantee that the treatment against the type of congenital deafness that the little boy suffered from would work; nor, if so, the level of recovery of hearing capacity that he would achieve.
Aissam, deaf from birth due to a condition that affects only 200,000 people worldwide, heard the first words of his life in a language foreign to his environment. They were not in the Amazigh he is a worker native of his family, nor in the Spanish or Catalan spoken in the place where they now live. Nor is the sign language used in the United States similar to the sign language in Spanish that he learned in the special school in Barcelona where he attended school for the first time in his life after arriving in the city from Morocco. After moving to Barcelona three years ago, his family went to an otorhinolaryngologist who considered Aissam suitable for the clinical trial and nominated him for it.
The newspaper tells it this Tuesday The New York Times, who through interpreters has managed to speak with the boy and his father, a construction worker. Unlike disabling types of deafness, Aissam’s is extremely rare, caused by a mutation in a single gene, otoferlin. The goal of gene therapy is to replace the mutated or defective otoferlin gene in patients’ ears with a functional gene.
The success of the clinical trial opens the door to new gene therapies aimed at other forms of congenital deafness, even in younger patients, although researchers at the Philadelphia hospital warn that the process can take years. On October 4, Aissam became the first person to receive gene therapy for congenital deafness in the United States. The trial, one of five ongoing (the others are being conducted in China and Europe) or about to begin, is funded by pharmaceutical company Eli Lilly and Akouos, a small biotechnology firm it owns. The researchers hope to expand the study to six centers in the United States.
The researchers of the five ongoing studies will present their conclusions on February 3 at a meeting of the Otorhinolaryngology Research Association, explains The New York Times. According to experts, these tests mark a new frontier for gene therapy, which until now had not paid special attention to hearing loss. “There has never been a biological, medical or surgical way to correct the underlying biological changes that cause the inner ear to not function,” otolaryngologist Dylan K. Chan of the University of California, who was not involved in the clinical trial, told the newspaper. which restored the child’s hearing.
Although otoferlin mutations are not the most common cause of congenital deafness, there is a reason why so many researchers have focused on it. According to John A. Germiller, an otolaryngologist who led the Philadelphia hospital study, this form of congenital deafness was the most accessible. The mutated otoferlin gene destroys a protein in the hair cells of the inner ear necessary to transmit sound to the brain. With many of the other mutations that cause deafness, the hair cells die during infancy or even in the fetal phase. But with otoferlin deafness, hair cells can survive for years, giving time to replace the defective gene with gene therapy, using a harmless virus carrying new otoferlin genes in two drops of liquid that are gently injected along of the cochlea, carrying the genes to each hair cell.
Until his family arrived in Barcelona, Aissam had not gone to school. He grew up in a poor town, in the middle of complete silence, and expressed himself through a sign language invented by him that allowed him to communicate with those around him. After moving to Spain, he was educated in a special school for children with hearing disabilities where he learned sign language in Spanish. When Aissam was deemed eligible to be patient No. 1 in the clinical trial, Lilly and Akouos paid for him and his father’s stay in Philadelphia for four months while he underwent treatment. A treatment thanks to which he has heard the first sounds of his life – the first words, also the first music or even the annoying traffic noises – thousands of kilometers away from his life in silence.
You can follow MATERIA in Facebook, X e Instagramclick here to receive our weekly newsletter.