Otoferlin Gene-mediated Hearing Loss Natural History Study

Study Overview
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Brief Summary
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This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.

Official Title
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A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss

Conditions
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Sensorineural Hearing Loss, Bilateral

Intervention / Treatment
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* Other: Natural History Study


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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 Mutation(s) in the otoferlin gene 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: 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: Unwillingness or inability of the potential participant and/or legally authorized representative to comply with all protocol requirements Presence of cochlear nerve deficiency and/or cochlear nerve dysplasia Additional Criteria for Exclusion from the Prospective Phase: Presence of bilateral cochlear implants at the time of record review or planned within the next 6 months Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months 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

Ages Eligible for Study
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Maximum Age: 44 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Retrospective<br> | Other: Natural History Study<br>* Natural History Study<br>|
| Prospective<br> | Other: Natural History Study<br>* Natural History Study<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| ABR | Auditory Brainstem Response | First audiologic data in participant medical record through five-year prospective follow up | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| OAE | Otoacoustic Emissions | First audiologic data in participant medical record through the five-year prospective follow up | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder