WebSep 14, 2024 · The FDA has cleared an investigational new drug (IND) application for Akouos’ AK-OTOF, an investigational dual adeno-associated viral (AAV) vector-based gene therapy intended for the treatment of otoferlin gene (OTOF)-mediated hearing loss, clearing the way for a clinical trial to begin. 1AK-OTOF delivers transgenes encoding OTOF, the … WebJan 3, 2024 · The study of otoferlin-gene mediated hearing loss benefits from a reliable mouse model that recapitulates the natural history and the pathophysiology of the condition in humans.
9381 - Gene ResultOTOF otoferlin [ (human)]
WebIntroduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. … WebApr 13, 2024 · Otoferlin gene (OTOF)-mediated hearing loss is a form of sensorineural hearing loss caused by mutations in the OTOF gene. The OTOF gene encodes otoferlin, ... construction inception report
OTOF otoferlin [Homo sapiens (human)] - Gene - NCBI
WebAK-OTOF is a gene therapy intended for the treatment of, and potential restoration of hearing, in individuals with sensorineural hearing loss due to mutations in the otoferlin (OTOF) gene. Normal o toferlin function enables the sensory cells of the ear (hair cells) to release neurotransmitter in response to stimulation by sound to activate auditory neurons. WebAuditory neuropathy is a special type of hearing loss caused by dysfunction of the synapse of the inner hair cells, the auditory nerve, and/or the auditory nerve itself. For patients with auditory neuropathy who have severe to profound hearing loss or failed auditory skills development with hearing-aids, cochlear implantation (CI) serves as the only possible … WebHearing loss and balance disorders affect millions of people worldwide, ... otoferlin-related hearing loss. Otoferlin deficiency is the leading genetic cause of auditory neuropathy in newborns, ... construction index 100