RecruitingNot Applicable

Otoferlin Gene-mediated Hearing Loss Natural History Study

United States, Australia, Germany150 participantsStarted 2022-07-14

Plain-language summary

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

Who can participate

Age range

44 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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
. 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
. 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

ABR

Timeframe: First audiologic data in participant medical record through five-year prospective follow up

Trial details

NCT IDNCT05572073

SponsorAkouos, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2029-02

Contact for this trial

Akouos Clinical Trials

+1 857 410 1816 AkouosClinicalTrials@Lilly.com

View on ClinicalTrials.gov More Sensorineural Hearing Loss, Bilateral trials