Why it matters: Children born with OTOF-related deafness have had no targeted treatment, only devices that work around the problem; a one-time therapy that restores natural hearing is a genuine first though it works only for this rare genetic cause and its durability is still being confirmed.
A one-time gene therapy for children born deaf from OTOF gene mutations has won FDA accelerated approval, the first therapy to target a genetic cause of hearing loss directly. Two caveats up top: the approval is accelerated and rests on a surrogate endpoint (hearing improvement at week 24), with continued approval contingent on confirmatory studies, and it treats only this rare OTOF cause, not deafness broadly. The therapy, Otarmeni (lunsotogene parvec-cwha), from Regeneron, uses a dual-AAV vector to deliver a working OTOF gene to inner-ear hair cells in a single surgical infusion. In the Phase 1/2 CHORD trial, 24 children aged 10 months to 16 years were treated, and of 20 evaluable for efficacy, 80% had improved hearing; 5 of 12 followed for at least 11 months had hearing essentially restored to normal. Most important limitation: the trial is small and single-arm, long-term durability is unproven (hence accelerated approval), and it applies only to OTOF-related deafness, which affects roughly 50 US newborns a year.
“It's completely life-changing.”Dr. A. Eliot Shearer · otolaryngologist, Boston Children's Hospital / Harvard Medical School · trial investigator