RecruitingNot Applicable

Otoferlin Gene-mediated Hearing Loss Natural History Study

United States, Australia150 participantsStarted 2022-07-14

Plain-language summary

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

Age range44 Years

SexALL

See this in plain English?

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

✓. 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

✕. 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

ABR

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

NCT IDNCT05572073

SponsorAkouos, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2029-02

Akouos Clinical Trials

Who can participate

Age range44 Years

SexALL

See this in plain English?

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

✓. 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

✕. 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