Otoferlin Gene-mediated Hearing Loss Natural History Study

Recruiting

• Conditions: Sensorineural Hearing Loss, Bilateral
• Interventions: Other: Natural History Study

• Registration Number: NCT05572073
• Lead Sponsor: Akouos, Inc.

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2022-07-14
• Study First Submitted: 2022-10-05
• Study First Submitted QC: 2022-10-05
• Study First Posted: 2022-10-07
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-21
• Last Update Posted: 2024-10-23
• Primary Completion: 2029-02
• Study Completion: 2029-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Retrospective	Natural History Study	-
Prospective	Natural History Study	-

Primary Outcome Measures

Name	Time	Method
ABR	First audiologic data in participant medical record through five-year prospective follow up	Auditory Brainstem Response

Secondary Outcome Measures

Name	Time	Method
OAE	First audiologic data in participant medical record through the five-year prospective follow up	Otoacoustic Emissions

Trial Locations

Locations (9)

University of Iowa; 🇺🇸 Iowa City, Iowa, United States

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

University Hospital in Tübingen; 🇩🇪 Tübingen, Germany

University College London; 🇬🇧 London, United Kingdom

Murdoch Children's Research Institute; 🇦🇺 Parkville, Victoria, Australia

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

Vanderbilt University Medical Center; 🇺🇸 Nashville, Tennessee, United States

Sant Joan de Déu Barcelona Hospital; 🇪🇸 Esplugues de Llobregat, Barcelona, Spain

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan