Otoferlin Gene-mediated Hearing Loss Natural History Study

February 9, 2024 updated by: Akouos, Inc.

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

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Australia
    • Victoria
      • Parkville, Victoria, Australia, VIC 3052
        • Recruiting
        • Murdoch Children's Research Institute
  • Germany
      • Tübingen, Germany, 72076
        • Recruiting
        • University Hospital in Tübingen
  • Spain
    • Barcelona
      • Esplugues de Llobregat, Barcelona, Spain, 08950
        • Recruiting
        • Sant Joan de Déu Barcelona Hospital
  • Taiwan
      • Taipei, Taiwan, 100
        • Recruiting
        • National Taiwan University Hospital
  • United Kingdom
      • London, United Kingdom, NW1 2PG
        • Recruiting
        • University College London
  • United States
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Recruiting
        • University of Iowa
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
    • Tennessee
      • Nashville, Tennessee, United States, 37232-8605
        • Recruiting
        • Vanderbilt University Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 44 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Retrospective
Other: Natural History Study
Natural History Study
Prospective
Other: Natural History Study
Natural History Study

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
ABR
Time Frame: First audiologic data in participant medical record through five-year prospective follow up
Auditory Brainstem Response
First audiologic data in participant medical record through five-year prospective follow up

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
OAE
Time Frame: First audiologic data in participant medical record through the five-year prospective follow up
Otoacoustic Emissions
First audiologic data in participant medical record through the five-year prospective follow up

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Akouos, Inc.

Collaborators

Eli Lilly and Company

Investigators

  • Study Director: Kathy Reape, MD, Akouos, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 14, 2022

Primary Completion (Estimated)

February 1, 2029

Study Completion (Estimated)

February 1, 2029

Study Registration Dates

First Submitted

October 5, 2022

First Submitted That Met QC Criteria

October 5, 2022

First Posted (Actual)

October 7, 2022

Study Record Updates

Last Update Posted (Actual)

February 13, 2024

Last Update Submitted That Met QC Criteria

February 9, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AK-OTOF-NHS-002

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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