Trial Review

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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT05572073




Registration number
NCT05572073
Ethics application status
Date submitted
5/10/2022
Date registered
7/10/2022
Date last updated
13/02/2024

Titles & IDs
Public title
Otoferlin Gene-mediated Hearing Loss Natural History Study
Scientific title
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Secondary ID [1] 0 0
AK-OTOF-NHS-002
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Sensorineural Hearing Loss, Bilateral 0 0
Condition category
Condition code
Ear 0 0 0 0
Deafness
Neurological 0 0 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Other interventions - Natural History Study

Retrospective -

Prospective -


Other interventions: Natural History Study
Natural History Study
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
ABR
Timepoint [1] 0 0
First audiologic data in participant medical record through five-year prospective follow up
Secondary outcome [1] 0 0
OAE
Timepoint [1] 0 0
First audiologic data in participant medical record through the five-year prospective follow up

Eligibility
Key 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
Minimum age
No limit
Maximum age
44 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
14/07/2022
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/02/2029
Actual
Sample size
Target
150
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Murdoch Children's Research Institute - Parkville
Recruitment postcode(s) [1] 0 0
VIC 3052 - Parkville
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Iowa
Country [2] 0 0
United States of America
State/province [2] 0 0
Ohio
Country [3] 0 0
United States of America
State/province [3] 0 0
Pennsylvania
Country [4] 0 0
United States of America
State/province [4] 0 0
Tennessee
Country [5] 0 0
Germany
State/province [5] 0 0
Tübingen
Country [6] 0 0
Spain
State/province [6] 0 0
Barcelona
Country [7] 0 0
Taiwan
State/province [7] 0 0
Taipei
Country [8] 0 0
United Kingdom
State/province [8] 0 0
London

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Akouos, Inc.
Address
Country
Other collaborator category [1] 0 0
Commercial sector/Industry
Name [1] 0 0
Eli Lilly and Company
Address [1] 0 0
Country [1] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
This is a retrospective and prospective longitudinal study in participants with Otoferlin
Gene-Mediated Hearing Loss.
Trial website
https://clinicaltrials.gov/ct2/show/NCT05572073
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Kathy Reape, MD
Address 0 0
Akouos, Inc.
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Akouos Clinical Trials
Address 0 0
Country 0 0
Phone 0 0
(1) 8574101816
Fax 0 0
Email 0 0
clinicaltrials@akouos.com
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT05572073