Deaf toddler hears for the first time after groundbreaking gene therapy

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A toddler can hear for the first time after being treated with a groundbreaking gene therapy for deafness.

The girl, Opal Sandy from Great Britain, according to the BBC, has an inherited mutation in a gene called otoferlin, a key component that allows people to perceive sound in the cells of the ear. Deafness caused by otoferlin mutations is very rare, occurring in less than 1% of all deaf people. Only 30 to 50 people per year in the United States are diagnosed with otoferlin-related deafness.

“This is a relatively rare form of deafness,” says Dr. Lawrence Lustig, MD, chairman of the Department of Otolaryngology at Columbia University, a clinical trial investigator who presented the work at Columbia University. Annual Meeting of the American Society for Gene and Cell Therapy in Baltimore. “But because we have good cell preservation in the cochlea, this gives us a great opportunity to intervene in early childhood and try to save hearing loss before degeneration sets in.”

The CHORD study is run by biotechnology company Regeneron in collaboration with doctors from teaching hospitals in Great Britain, Spain and the US. The experimental therapy, DB-OTO, received orphan drug, rare pediatric disease and fast track designations from the U.S. Food and Drug Administration.

The therapy uses a genetically modified virus that is injected into a small part of the ear to repair the faulty gene.

Sandy received the therapy when she was ten months old and was monitored for side effects. She experienced only mild symptoms, many of which were thought to be unrelated to the injected therapy. She also underwent several hearing tests and showed signs of improvement just four weeks after therapy. After three months, the child showed remarkable improvement. Her hearing in the treated ear was considered normal at all typical conversational tone frequencies six months after therapy.

“At 24 weeks, she has essentially normal hearing,” Lustig said, noting that at higher sound frequencies the child is still considered to have mild hearing loss.

Dr. Lustig also spoke about a second patient, a 4-year-old male who recently received the therapy and is showing similar, early signs of improvement in his hearing six weeks after treatment.

“We think this will be a viable treatment for genetic deafness, for patients with otoferin-related hearing loss,” said Lusty in the presentation. “With the DB-OTO CHORD trial now enrolling participants at sites across the US and Europe, we are part of the dawn of a new era of gene therapy research that aims to create treatment options that address the root cause of profound genetic deafness.”

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