NCT05572073

Brief Summary

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

Trial Health

83
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
34mo left

Started Jul 2022

Longer than P75 for all trials

Geographic Reach
7 countries

10 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress58%
Jul 2022Feb 2029

Study Start

First participant enrolled

July 14, 2022

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

October 5, 2022

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 7, 2022

Completed
6.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2029

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2029

Last Updated

March 4, 2026

Status Verified

December 1, 2025

Enrollment Period

6.6 years

First QC Date

October 5, 2022

Last Update Submit

March 3, 2026

Conditions

Sensorineural Hearing Loss, Bilateral

Keywords

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

Outcome Measures

Primary Outcomes (1)

  • ABR

    Auditory Brainstem Response

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

Secondary Outcomes (1)

  • OAE

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

Study Arms (2)

Retrospective

Other: Natural History Study

Prospective

Other: Natural History Study

Interventions

Natural History StudyOTHER

Natural History Study

ProspectiveRetrospective

Eligibility Criteria

AgeUp to 44 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Individuals with hearing loss due to confirmed otoferlin gene mutation(s)

You may qualify if:

  • 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

You may not qualify if:

  • 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
  • Note: Potential participants will not be excluded based on their sex, gender, race, or ethnicity

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

University of Iowa

Iowa City, Iowa, 52242, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, 37232-8605, United States

RECRUITING

Murdoch Children's Research Institute

Parkville, Victoria, VIC 3052, Australia

WITHDRAWN

University Hospital in Tübingen

Tübingen, 72076, Germany

RECRUITING

Sant Joan de Déu Barcelona Hospital

Esplugues de Llobregat, Barcelona, 08950, Spain

RECRUITING

National Taiwan University Hospital

Taipei, 100, Taiwan

RECRUITING

Ankara University

Ankara, Turkey, 06230, Turkey (Türkiye)

RECRUITING

University College London

London, United Kingdom, NW1 2PG, United Kingdom

RECRUITING

MeSH Terms

Conditions

Hearing Loss, SensorineuralAuditory neuropathy

Condition Hierarchy (Ancestors)

Hearing LossHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesSensation DisordersNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

  • Peter Marks, MD

    Eli Lilly and Company

    STUDY DIRECTOR

Central Study Contacts

Akouos Clinical Trials

CONTACT

+1 857 410 1816AkouosClinicalTrials@Lilly.com

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
OTHER
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 5, 2022

First Posted

October 7, 2022

Study Start

July 14, 2022

Primary Completion (Estimated)

February 1, 2029

Study Completion (Estimated)

February 1, 2029

Last Updated

March 4, 2026

Record last verified: 2025-12

Locations

TW(1)DE(1)GB(1)TU(1)US(4)ES(1)AU(1)