Otoferlin Gene-mediated Hearing Loss Natural History Study
Trial Parameters
Brief Summary
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
Eligibility Criteria
Inclusion Criteria: 1. Clinical presentation of bilateral sensorineural hearing loss (SNHL), including auditory neuropathy (AN) / auditory neuropathy spectrum disorder (ANSD) phenotype or medical history of AN / ANSD phenotype earlier in life 2. Mutation(s) in the otoferlin gene 3. Able and willing to comply with all study requirements, as evidenced by successful completion of the informed consent (and assent, if applicable) process Additional Criteria for Inclusion in the Prospective Phase: 4. Presence of OAE / CM and absent / abnormal ABRs in at least one ear (that does not have a cochlear implant) within 12 months prior to or at the Month 0 visit Exclusion Criteria: 1. Unwillingness or inability of the potential participant and/or legally authorized representative to comply with all protocol requirements 2. Presence of cochlear nerve deficiency and/or cochlear nerve dysplasia Additional Criteria for Exclusion from the Prospective Phase: 3. Presence of bilateral cochlear implants at