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Recruiting

NCT Number: NCT05572073

Otoferlin Gene-mediated Hearing Loss Natural History Study

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

Recruiting

Interested in participating?

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Key information

Conditions

Sensorineural Hearing Loss, Bilateral Auditory neuropathy Ear Diseases Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Sensation Disorders Signs and Symptoms

Age range

Up to 44 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Murdoch Children's Research Institute, Parkville, Victoria, Australia

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Natural History Study

Other

Natural History Study

Primary outcomes

  1. ABR

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

    Auditory Brainstem Response

Secondary outcomes

  1. OAE

    Time frame: First audiologic data in participant medical record through the five-year prospective follow up

    Otoacoustic Emissions

Study contacts

Contact information is provided by the study sponsor or research team.

Akouos Clinical Trials

CONTACT

[email protected]

+1 857 410 1816

Sponsors and collaborators

Lead sponsor

Akouos, Inc.

Industry

Collaborators

  • Eli Lilly and Company

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2029
Study completion
2029
First posted
Oct 7, 2022
Registry last updated
Mar 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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