Sensorineural Hearing Loss, BilateralNCT05572073
Otoferlin Gene-mediated Hearing Loss Natural History Study
An observational study of Sensorineural Hearing Loss, Bilateral, run by Akouos, Inc. at 10 sites in 7 countries.
Trial summary
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss. Read more about this study
- Who is it for?
- Ages Up to 44 years
- Conditions the study is for
- Sensorineural Hearing Loss, Bilateral
- What is being tested?
- Natural History Study
- How many people
- 150 participants
- Where
- 10 sitesin 7 countries
- Study dates
- 14 Jul 2022to Feb 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 44 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Individuals with hearing loss due to confirmed otoferlin gene mutation(s)
Who may be able to join
- 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
- Mutation(s) in the otoferlin gene
- 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:
- 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
Who cannot join
- Unwillingness or inability of the potential participant and/or legally authorized representative to comply with all protocol requirements
- Presence of cochlear nerve deficiency and/or cochlear nerve dysplasia
- Additional Criteria for Exclusion from the Prospective Phase:
- Presence of bilateral cochlear implants at the time of record review or planned within the next 6 months
- Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months
- 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
Trial locations and contacts
10 sites in 7 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 7 countries
United States4 sites, 4 recruiting
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
- Recruiting
University of Iowa
Iowa City, Iowa, 52242
- Recruiting
Vanderbilt University Medical Center
Nashville, Tennessee, 37232-8605
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Australia1 site
- Withdrawn
Murdoch Children's Research Institute
Parkville, Victoria, VIC 3052
Germany1 site, 1 recruiting
- Recruiting
University Hospital in Tübingen
Tübingen, 72076
Spain1 site, 1 recruiting
- Recruiting
Sant Joan de Déu Barcelona Hospital
Esplugues de Llobregat, Barcelona, 08950
Taiwan1 site, 1 recruiting
- Recruiting
National Taiwan University Hospital
Taipei, 100
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Ankara University
Ankara, Turkey, 06230
United Kingdom1 site, 1 recruiting
- Recruiting
University College London
London, United Kingdom, NW1 2PG
About this study
Official title: 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.
- Conditions
- Sensorineural Hearing Loss, Bilateral
- Being tested
- Natural History Study
- Keywords
- Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder
- Medical subject headings
- Hearing Loss, Sensorineural, Auditory neuropathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural History StudyOther
Natural History Study
| Study group | Role | What they receive |
|---|---|---|
| Retrospective | Not described Receives: Other: Natural History Study | |
| Prospective | Not described Receives: Other: Natural History Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
ABR
Auditory Brainstem Response
Measured: First audiologic data in participant medical record through five-year prospective follow up
Secondary outcomes (1)
OAE
Otoacoustic Emissions
Measured: First audiologic data in participant medical record through the five-year prospective follow up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Oct 2022
- Study start14 Jul 2022
- Primary completionFeb 2029 (estimated)
- Study completionFeb 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sensorineural Hearing Loss, BilateralStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Other
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Akouos, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Eli Lilly and Company
- Responsible party
- Sponsor
- Investigators
- Peter Marks, MD, Study director, Eli Lilly and Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05572073
- Sponsor's protocol ID
- AK-OTOF-NHS-002
- Status last verified
- Dec 2025
- First submitted
- 5 Oct 2022
- Last updated
- 4 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
- ClinicalTrials.gov ID
- NCT05572073
- Acronym / sponsor ID
- AK-OTOF-NHS-002
- Conditions
- Sensorineural Hearing Loss, Bilateral
- Keywords
- Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Akouos, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Eli Lilly and Company
- Study start
- 14 Jul 2022 (actual)
- Primary completion
- Feb 2029 (estimated)
- Study completion
- Feb 2029 (estimated)
- First posted
- 7 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Retrospective | – | Other: Natural History Study |
| Prospective | – | Other: Natural History Study |
Who may qualify
- Ages
- Up to 44 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Individuals with hearing loss due to confirmed otoferlin gene mutation(s)
Key inclusion criteria (5 listed)
- 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
- Mutation(s) in the otoferlin gene
- Able and willing to comply with all study requirements, as evidenced by successful completion of the informed consent (and assent, if applicable) process
- 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
Key exclusion criteria (7 listed)
- Unwillingness or inability of the potential participant and/or legally authorized representative to comply with all protocol requirements
- Presence of cochlear nerve deficiency and/or cochlear nerve dysplasia
- Presence of bilateral cochlear implants at the time of record review or planned within the next 6 months
- Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural History StudyNatural History Study | Other | Prospective, Retrospective |
Primary outcome
ABR
Time frame: First audiologic data in participant medical record through five-year prospective follow up
Auditory Brainstem Response
1 secondary outcome
OAE
Time frame: First audiologic data in participant medical record through the five-year prospective follow up
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Peter Marks, MD study director
Eli Lilly and Company
10 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sensorineural Hearing Loss, Bilateral, run by Akouos, Inc. at 10 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, Australia, Germany, Spain, Taiwan and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Akouos Clinical Trials (+1 857 410 1816, AkouosClinicalTrials@Lilly.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
ABR (time frame: First audiologic data in participant medical record through five-year prospective follow up). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Mar 2026.