New gene therapy could restore hearing in children

Early findings indicate promising results, suggesting that this gene therapy could serve as a breakthrough solution for children affected by congenital deafness due to genetic factor.

A 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧 𝐩𝐫𝐞𝐯𝐞𝐧𝐭𝐢𝐧𝐠 𝐭𝐡𝐞 𝐩𝐫𝐨𝐝𝐮𝐜𝐭𝐢𝐨𝐧 𝐨𝐟 𝐭𝐡𝐞 𝐨𝐭𝐨𝐟𝐞𝐫𝐥𝐢𝐧 𝐩𝐫𝐨𝐭𝐞𝐢𝐧, without which auditory information cannot circulate between the synapses of ciliated sensory cells and the auditory nerve, causes 𝐝𝐞𝐚𝐟𝐧𝐞𝐬𝐬, 𝐚𝐥𝐬𝐨 𝐧𝐚𝐦𝐞𝐝 𝐚𝐬 𝐃𝐅𝐍𝐁𝟗. The physiological and anatomical development of the ear is however unaffected by this gene mutation. The technique of this gene therapy involves 𝐢𝐧𝐣𝐞𝐜𝐭𝐢𝐧𝐠 𝐚𝐧 𝐚𝐝𝐞𝐧𝐨-𝐚𝐬𝐬𝐨𝐜𝐢𝐚𝐭𝐞𝐝 𝐯𝐢𝐫𝐮𝐬 𝐯𝐞𝐜𝐭𝐨𝐫 carrying the otoferlin gene and that can 𝐬𝐩𝐞𝐜𝐢𝐟𝐢𝐜𝐚𝐥𝐥𝐲 𝐭𝐚𝐫𝐠𝐞𝐭 𝐭𝐡𝐞 𝐚𝐮𝐝𝐢𝐭𝐨𝐫𝐲 𝐡𝐚𝐢𝐫 𝐜𝐞𝐥𝐥𝐬.

Studies on mice with a faithful replication of DFNB9 show complete recovery of normal hearing after a 𝐬𝐢𝐧𝐠𝐥𝐞 𝐢𝐧𝐣𝐞𝐜𝐭𝐢𝐨𝐧 𝐨𝐟 𝐭𝐡𝐞 𝐒𝐄𝐍𝐒-𝟓𝟎𝟏 𝐠𝐞𝐧𝐞 𝐭𝐡𝐞𝐫𝐚𝐩𝐲. The therapy, designed by Sensorion, will be tested on twelve children from six to 31 months in the Audiogene trial, aiming to 𝐦𝐚𝐱𝐢𝐦𝐢𝐳𝐞 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭 𝐞𝐟𝐟𝐢𝐜𝐚𝐜𝐲 during neural system maturation and support language development. There are 𝐬𝐞𝐯𝐞𝐫𝐚𝐥 𝐚𝐝𝐯𝐚𝐧𝐭𝐚𝐠𝐞𝐬 𝐨𝐟 𝐭𝐡𝐢𝐬 𝐠𝐞𝐧𝐞 𝐭𝐡𝐞𝐫𝐚𝐩𝐲 over traditional cochlear implants, such as a single surgery, minimal maintenance, and direct targeting of affected cells, offering a 𝐩𝐨𝐭𝐞𝐧𝐭𝐢𝐚𝐥𝐥𝐲 𝐭𝐫𝐚𝐧𝐬𝐟𝐨𝐫𝐦𝐚𝐭𝐢𝐯𝐞 𝐬𝐨𝐥𝐮𝐭𝐢𝐨𝐧 for children with congenital deafness.

This new therapy may represent 𝐚 𝐦𝐚𝐣𝐨𝐫 𝐚𝐝𝐯𝐚𝐧𝐜𝐞 since the introduction of the cochlear implant 30 years ago.