Aissam Dam: Gene therapy restores hearing to 11-year-old boy with congenital deafness | The science

Aissam Dame, 11, the son of a Moroccan family who emigrated to Barcelona, ​​had his hearing restored thanks to gene therapy experimented in the United States. Researchers in charge of the clinical trial conducted at the Children’s Hospital of Philadelphia did not guarantee that treatment for the type of congenital deafness the little boy suffered would work; nor, if so, the level of hearing restoration that will be achieved.

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 those around him. They weren’t in Amazigh or Berber native of their family, neither Spanish nor Catalan is the language spoken in the place where they now live. The sign language used in the United States is also different from the Spanish sign language he learned at the special school in Barcelona where he was enrolled for the first time in his life after arriving in the city from Morocco. After moving to Barcelona three years ago, his family approached an otolaryngologist, who found Aissam suitable for a clinical trial and nominated him for it.

The newspaper reported this on Tuesday. New York Times, who, through translators, managed to talk to the boy and his father, a builder. Unlike disabling types of deafness, Aissam’s disease is extremely rare and is 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 clinical trial’s success opens the door to new gene therapies targeting other forms of congenital deafness, even in younger patients, although Philadelphia hospital researchers warn the process could take years. On October 4, Aissam became the first person in the United States to receive gene therapy for congenital deafness. The study, one of five that is ongoing (the others are in China and Europe) or about to begin, is being funded by the pharmaceutical company Eli Lilly and Akouos, a small biotech firm it owns. The researchers hope to expand the study to six centers in the United States.

Investigators from the five ongoing studies will present their findings on February 3 at a meeting of the Association for Research in Otorhinolaryngology, explains. New York Times. Experts say the tests mark a new frontier for gene therapy, which until now has had little focus on 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,” said otolaryngologist Dylan K. Chen of the University of California, who was not involved in the clinical trial. a newspaper that restored a 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 study at a Philadelphia hospital, this form of congenital deafness was the most accessible. The mutated otoferlin gene destroys a protein in the hair cells of the inner ear that is needed to transmit sound to the brain. In many other mutations that cause deafness, the hair cells die in infancy or even the fetal stage. But in otoferlin deafness, the hair cells can survive for years, giving time to replace the defective gene with gene therapy, using a harmless virus that carries new otoferlin genes in two drops of liquid that are carefully injected along the cochlea, transferring the genes to each one. hair cell.

Until his family arrived in Barcelona, ​​Aissam did not go to school. He grew up in a poor town, in the midst of complete silence, and expressed himself through the sign language he invented, which allowed him to communicate with his surroundings. After moving to Spain, he was educated at a special school for children with hearing impairments, where he learned sign language in Spanish. When Aissam was identified as eligible patient No. 1 in the clinical trial, Lilly and Aquos paid for him and his father to stay in Philadelphia for four months while he received treatment. A treatment that will make you hear the first sounds of your life – the first words, the first music or even annoying traffic noises – thousands of kilometers away from your life in silence.

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