Actively Recruiting
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Led by Akouos, Inc. · Updated on 2026-03-04
150
Participants Needed
10
Research Sites
N/A
Total Duration
On this page
Sponsors
A
Akouos, Inc.
Lead Sponsor
E
Eli Lilly and Company
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying individuals with Otoferlin Gene-Mediated Hearing Loss, specifically those with bilateral sensorineural hearing loss (SNHL), including auditory neuropathy or auditory neuropathy spectrum disorder. This observational study combines both retrospective and prospective approaches to better understand the natural history of this condition. The study is sponsored by Akouos, Inc., and aims to gather detailed audiologic data over several years. Participants are observed through a natural history study involving no active treatment but careful monitoring of hearing function. The study includes retrospective data collection from medical records and a prospective phase lasting up to five years. During the prospective phase, participants must have certain hearing test results such as Otoacoustic Emissions (OAE) or cochlear microphonics (CM) present and abnormal auditory brainstem responses (ABRs) in at least one ear that does not have a cochlear implant. Participants will undergo audiologic assessments including ABR and OAE recordings from their first audiologic data available in medical records through the five-year follow-up. Researchers track hearing changes and other relevant clinical features over time. The study involves regular evaluations and follow-up visits to collect and monitor hearing data, with the total participation duration extending up to five years.
CONDITIONS
Brief Title
Otoferlin Gene-mediated Hearing Loss Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinical presentation of bilateral sensorineural hearing loss, including auditory neuropathy or auditory neuropathy spectrum disorder phenotype
- Mutation(s) in the otoferlin gene
- Able and willing to comply with all study requirements and complete informed consent
- For prospective phase: Presence of OAE/CM and absent or abnormal ABRs in at least one ear without cochlear implant within 12 months prior to or at Month 0 visit
You will not qualify if you...
- Unwillingness or inability to comply with all protocol requirements
- Presence of cochlear nerve deficiency or cochlear nerve dysplasia
- For prospective phase: Bilateral cochlear implants at record review or planned within next 6 months
- For prospective phase: Middle ear or auditory brainstem implants at record review or planned within next 6 months
- Any condition preventing completion of follow-up assessments or making participant unsuitable for study in investigator's opinion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants are observed to understand the natural history of otoferlin gene-mediated hearing loss over time.
Periodic visits during the 5-year follow-up
Trial Site Locations
Total: 10 locations
1
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
2
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
3
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
4
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232-8605
Actively Recruiting
5
Murdoch Children's Research Institute
Parkville, Victoria, Australia, VIC 3052
Withdrawn
6
University Hospital in Tübingen
Tübingen, Germany, 72076
Actively Recruiting
7
Sant Joan de Déu Barcelona Hospital
Esplugues de Llobregat, Barcelona, Spain, 08950
Actively Recruiting
8
National Taiwan University Hospital
Taipei, Taiwan, 100
Actively Recruiting
9
Ankara University
Ankara, Turkey, Turkey (Türkiye), 06230
Actively Recruiting
10
University College London
London, United Kingdom, United Kingdom, NW1 2PG
Actively Recruiting
Research Team
A
Akouos Clinical Trials
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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