All articles tagged with #otoferlin
FDA approves Regeneron's Otarmeni, the first gene therapy for a rare OTOF-mutation–driven hearing loss in infants; in a trial, a single-dose inner-ear injection improved hearing in 16 of 20 children, with some able to detect whispers; the company will provide the drug for free to U.S. patients, while pricing outside the U.S. has not been determined since it is not approved there.
In a multicenter, single-arm trial across eight centers, 42 participants with autosomal recessive OTOF-related congenital deafness received AAV1-hOTOF at three doses. No dose-limiting toxicities were observed, and 90% of treated ears achieved hearing recovery with progressive, durable improvements in ABR/ASSR thresholds and speech perception up to 2.5 years. Younger participants showed greater gains, and baseline DPOAE strength and certain OTOF variants predicted better outcomes, supporting broad efficacy and safety of the therapy over up to 2.5 years.
An experimental gene therapy has shown promise in restoring some hearing for children with an inherited form of deafness caused by a rare genetic defect in the otoferlin gene. The therapy, which involves modifying a virus to carry a functioning form of the gene into the inner ear, resulted in improved hearing for five out of six children involved in the study. While the children's hearing isn't completely normal, the treatment appears safe and the researchers are hopeful that the improvement is permanent, marking a significant advancement in the treatment of hereditary deafness.