Gene therapy shows promise for a type of deafness


Children in the U.S. can hear, too: An experimental trial of otoferlin surgery for the deafness treatment

The children received a treatment that delivered a working version of the otoferlin gene to the inner ear. The cells of the inner ear then read this gene and produce the protein. There are a number of cutting-edge therapies approved in the US and Europe. Given just once, they’re designed to correct disease-causing genes—hopefully permanently.

For the deafness treatment, researchers at the Eye & ENT Hospital of Fudan University in Shanghai collaborated with a team at Mass Ear and Eye, a Harvard-affiliated hospital in Boston.

The oldest child, who is 7 years old, was able to say simple words after getting used to hearing it. The children were treated at a hospital in China.

Before the treatment, they couldn’t hear anything. You could put the loudest noise in their ear and they wouldn’t hear it. “And now they can hear.”

As many as 100 children with the otoferlin defect are born annually in the U.S., according to Lustig.

Born deaf, the 1-year-old boy had never responded to sound or speech before. But after receiving an experimental treatment injected into one of his ears, he started turning his head when his parents called his name. Five months later, he spoke his first words.

“It’s remarkable,” says Lawrence Lustig, a hearing loss expert at Columbia University who was not involved in the trial. “We’ve never had a therapy that restores even partial hearing for someone who’s totally deaf other than a cochlear implant.”

The children were all born with a mutation in a gene that makes a protein needed for hearing called otoferlin. We hear things when sound waves in the air cause the thousands of sensory hair cells in our inner ears to vibrate and release a chemical that relays that information to the brain. Otoferlin is necessary for the release of this chemical messenger. Without it, the ear can’t communicate with the brain.