In a medical first, Shanghai’s 9th People’s Hospital has initiated the world’s inaugural clinical trial for a gene-editing therapy targeting congenital deafness attributed to otoferlin (OTOF) gene mutations. The therapy, developed by HuidaGene Therapeutics Co., Ltd, represents a significant advance in the treatment of auditory neuropathy, a leading cause of hearing impairment globally.
The trial focuses on the OTOF Q829X mutation, employing an enhanced mini-dCas13X RNA base editor (emxABE) delivered via an AAV9 variant. Preliminary data from a study published in Molecular Therapy in December 2023 indicated nearly complete restoration of OTOF expression and significant recovery of auditory function in mice, setting the stage for human trials.
Patients worldwide, specifically children aged 1-16 with the OTOF Q829X mutation and predominantly within the Spanish population, are being recruited for the trial. The goal is to achieve a cure for deafness with a single injection to the inner ear, marking a potential paradigm shift in the treatment of congenital deafness.
HuidaGene Therapeutics, a frontrunner in China’s gene therapy development, has two other candidates in global clinical trials for ophthalmology indications: HG004, a gene replacement therapy for RPE65 mutation-associated inherited retinal dystrophies (RPE65-IRDs), and HG202, an RNA editing-based therapy for neovascular (wet) age-related macular degeneration (nAMD). The US FDA has granted HG204 Rare Pediatric Disease Designation (RPDD) for its potential in treating MECP2 duplication syndrome (MDS), while the CRISPR-Cas12 DNA editing therapy HG302 has received both RPDD and orphan drug status for its potential in treating Duchenne muscular dystrophy (DMD) .- Flcube.com
