Study detail
Recruiting
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Akouos, Inc.
Summary
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
Eligibility
- Age range
- Up to 44 years
- Sex
- All
- Healthy volunteers
- No
Detailed 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 cochl…