Sensorineural Hearing Loss, Bilateral
Conditions
Keywords
Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder
Brief summary
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
Interventions
Natural History Study
Sponsors
Akouos, Inc.
Eli Lilly and Company
Study design
Observational model
CASE_ONLY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 44 Years
Healthy volunteers
No
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 the time of record review or planned within the next 6 months 4. Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months 5. Any condition that would not allow the potential participant to complete follow-up assessments during the course of the study and/or, in the opinion of the Investigator, makes the potential participant unsuitable for the study Note: Potential participants will not be excluded based on their sex, gender, race, or ethnicity
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| ABR | First audiologic data in participant medical record through five-year prospective follow up | Auditory Brainstem Response |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| OAE | First audiologic data in participant medical record through the five-year prospective follow up | Otoacoustic Emissions |
Countries
Australia, Germany, Spain, Taiwan, Turkey (Türkiye), United Kingdom, United States
Contacts
CONTACTAkouos Clinical Trials
STUDY_DIRECTORPeter Marks, MD
Eli Lilly and Company
Outcome results
None listed