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Sensorineural hearing loss (SNHL) is a result of damaged or missing cells, or cells lacking working copies of certain genes, inside the ear. Symptoms other than hearing loss can include speech delay in children, or lack of spoken language acquisition.
There are many genes that are important for hearing. Changes, or mutations, in these genes can cause SNHL. This study will evaluate if the study drug, administered using the study device, is safe and improves hearing in children with SNHL due to otoferlin gene mutations.
Our genes provide instructions to our cells to make proteins that help us live and grow. In particular, the otoferlin gene provides instructions for the body to make otoferlin, a protein necessary for hearing. When there are mutations in the otoferlin gene, the gene does not work properly, and the body cannot make functional otoferlin protein. Without functional otoferlin protein, sounds cannot be communicated from the ear to the brain, resulting in hearing loss.
Children with otoferlin gene mutations are typically born with a type of SNHL called auditory neuropathy. Auditory neuropathy means the inner ear detects sound, but cannot send the sound signal to the brain.