Otoferlin Gene-mediated Hearing Loss Natural History Study

• Sponsor: Akouos, Inc. (Industry)
• Overall Status: Recruiting
• CT.gov ID: NCT05572073
• Collaborator: Eli Lilly and Company (Industry)
• Enrollment: 150
• Locations: 5
• Anticipated Duration (Months): 78.7
• Patients Per Site: 30
• Patients Per Site Per Month: 0.4

Study Details

Study Description

Brief Summary

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

Condition or Disease	Intervention/Treatment	Phase
Sensorineural Hearing Loss, Bilateral	Other: Natural History Study

Study Design

• Study Type: Observational
• Anticipated Enrollment: 150 participants
• Observational Model: Case-Only
• Time Perspective: Other
• Official Title: A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
• Actual Study Start Date: Jul 14, 2022
• Anticipated Primary Completion Date: Feb 1, 2029
• Anticipated Study Completion Date: Feb 1, 2029

Arms and Interventions

Arm	Intervention/Treatment
Retrospective	Other: Natural History Study; Natural History Study
Prospective	Other: Natural History Study; Natural History Study

Outcome Measures

Primary Outcome Measures

1. ABR [First audiologic data in participant medical record through five-year prospective follow up]

   Auditory Brainstem Response

Secondary Outcome Measures

1. OAE [First audiologic data in participant medical record through the five-year prospective follow up]

   Otoacoustic Emissions

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A to 44 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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:

1. 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:

1. Presence of bilateral cochlear implants at the time of record review or planned within the next 6 months

2. Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months

3. 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
2	Vanderbilt University Medical Center	Nashville	Tennessee	United States	37232-8605
3	University Hospital in Tübingen	Tübingen		Germany	72076
4	Sant Joan de Déu Barcelona Hospital	Esplugues de Llobregat	Barcelona	Spain	08950
5	National Taiwan University Hospital	Taipei	Zhongzheng	Taiwan

Sponsors and Collaborators

• Akouos, Inc.
• Eli Lilly and Company

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Akouos, Inc.
• ClinicalTrials.gov Identifier: NCT05572073
• Other Study ID Numbers: AK-OTOF-NHS-002
• First Posted: Oct 7, 2022
• Last Update Posted: Feb 2, 2023
• Last Verified: Jan 1, 2023

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by Akouos, Inc.: Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder
• Additional relevant MeSH terms: Hearing Loss; Deafness; Hearing Loss, Sensorineural; Hearing Loss, Bilateral

Study Results

No Results Posted as of Feb 2, 2023