Dec 12, 2024
12 December at 17:30 CET
Various gene therapy approaches exist for congenital sensorineural deafness and progressive deafness. Initial practical applications have been conducted using deaf mouse models that somewhat replicate the pathology. These mice have been treated with intracochlear injections of gene therapy. Gene therapy using adeno-associated virus (AAV) is currently the most widely used option. Various etiologies are under evaluation: Usher syndrome type 1 (USH1), stereocilin pathology (STRC), Connexin 26 (GJB2), etc. The limitations for human application include finding an effective therapeutic window (as it does not correspond to that of mice) and verifying that efficacy is similar to that in the murine model.
The most advanced candidate is related to the Otoferlin mutation (OTOF/DFNB9). The deaf mouse model mimics human impairment. The anatomy of the inner ear is well conserved, and these mice have regained hearing after intracochlear injection of the therapy agent. Currently, four clinical studies for human patients are underway globally (Pharmaceutical groups: Refreshgene Therapeutics / Regeneron Pharmaceuticals / Sensorion / Eli Lilly): initial patients with profound deafness have already received an intracochlear injection since April 2023 and the first results appear promising.
These new, revolutionary therapies offer hope for the treatment of other causes of genetic deafness in the near future, opening an additional therapeutic avenue for many patients.
Necker Enfants Malades Genetic and ENT department are leaders in this new therapeutic option and running the gene therapy trial AUDIOGENE
To register click on the link: https://events.teams.microsoft.com/event/a51d371e-ae20-4445-b86e-1d4c1ce4f187@526638ba-6af3-4b0f-a532-a1a511f4ac80
