Otoferlin Gene-mediated Hearing Loss Natural History Study

NCT ID: NCT05572073

Last Updated: 2025-12-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-07-14

Study Completion Date

2029-02-28

Brief Summary

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

Detailed Description

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Conditions

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Sensorineural Hearing Loss, Bilateral

Keywords

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Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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Retrospective

Natural History Study

Intervention Type OTHER

Natural History Study

Prospective

Natural History Study

Intervention Type OTHER

Natural History Study

Interventions

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Natural History Study

Natural History Study

Intervention Type OTHER

Eligibility Criteria

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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
Maximum Eligible Age

44 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Eli Lilly and Company

INDUSTRY

Sponsor Role collaborator

Akouos, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Kathy Reape, MD

Role: STUDY_DIRECTOR

Akouos, Inc.

Locations

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University of Iowa

Iowa City, Iowa, United States

Site Status RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status RECRUITING

Murdoch Children's Research Institute

Parkville, Victoria, Australia

Site Status WITHDRAWN

University Hospital in Tübingen

Tübingen, , Germany

Site Status RECRUITING

Sant Joan de Déu Barcelona Hospital

Esplugues de Llobregat, Barcelona, Spain

Site Status RECRUITING

National Taiwan University Hospital

Taipei, , Taiwan

Site Status RECRUITING

Ankara University

Ankara, Turkey, Turkey (Türkiye)

Site Status RECRUITING

University College London

London, United Kingdom, United Kingdom

Site Status RECRUITING

Countries

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United States Australia Germany Spain Taiwan Turkey (Türkiye) United Kingdom

Central Contacts

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Akouos Clinical Trials

Role: CONTACT

Phone: +1 857 410 1816

Email: [email protected]

Other Identifiers

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AK-OTOF-NHS-002

Identifier Type: -

Identifier Source: org_study_id