Otoferlin Gene-mediated Hearing Loss Natural History Study

Sensorineural Hearing Loss, Bilateral Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05572073
• Other study ID #: AK-OTOF-NHS-002
• Status: Recruiting
• Start date: July 14, 2022
• Est. completion date: February 2029

Study information

• Verified date: February 2024
• Source: Akouos, Inc.
• Contact: Akouos Clinical Trials
• Phone: (1) 8574101816
• Email: clinicaltrials[@]akouos.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: February 2029
• Est. primary completion date: February 2029
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 44 Years

Eligibility

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

Related Conditions & MeSH terms

• Deafness
• Hearing Loss
• Hearing Loss, Bilateral
• Hearing Loss, Sensorineural
• Sensorineural Hearing Loss, Bilateral

Intervention

Other:
• Natural History Study
Natural History Study

Locations

Country	Name	City	State
Australia	Murdoch Children's Research Institute	Parkville	Victoria
Germany	University Hospital in Tübingen	Tübingen
Spain	Sant Joan de Déu Barcelona Hospital	Esplugues de Llobregat	Barcelona
Taiwan	National Taiwan University Hospital	Taipei
United Kingdom	University College London	London
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	University of Iowa	Iowa City	Iowa
United States	Vanderbilt University Medical Center	Nashville	Tennessee
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
Akouos, Inc.	Eli Lilly and Company

Countries where clinical trial is conducted

United States,  Australia,  Germany,  Spain,  Taiwan,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	ABR	Auditory Brainstem Response	First audiologic data in participant medical record through five-year prospective follow up
Secondary	OAE	Otoacoustic Emissions	First audiologic data in participant medical record through the five-year prospective follow up