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Following people with hearing loss caused by changes in the otoferlin gene

Follows people with otoferlin gene-mediated hearing loss over time to learn how it progresses.

Key facts

Who runs it
Akouos, Inc.
Where
London, United KingdomSee the siteAlso in 6 other countries, 9 sites
Trial code
Registry title
Otoferlin Gene-mediated Hearing Loss Natural History Study
Status
Recruiting
People taking part
150 people, planned
Started
14 Jul 2022
Expected to end
Feb 2029
Type of study
Observational, 2 groups
Treatments tested
  • Natural History Study
Record updated
4 March 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with hearing loss in both ears caused by changes in the otoferlin gene. It follows how the hearing loss changes over time, using past records and new visits.

Age
Up to 44 Years
Sex
All sexes can join.
Disease stage
Sensorineural hearing loss (inner ear or nerve hearing loss) in both ears. This includes auditory neuropathy (AN) / auditory neuropathy spectrum disorder (ANSD), now or earlier in life.
Earlier treatment
For the prospective (new visits) part: people cannot join if they have cochlear implants in both ears, or plan them within the next 6 months.
Biomarker or test result
Mutation(s) in the otoferlin gene. For the prospective part: OAE / CM present and ABRs absent or abnormal in at least one ear without a cochlear implant, within 12 months before or at the Month 0 visit.

Main reasons for not taking part

  • Cochlear nerve deficiency or cochlear nerve dysplasia (missing or badly formed hearing nerve)
  • Unable or unwilling to follow the study requirements
  • Prospective part: cochlear implants in both ears now or planned within 6 months
  • Prospective part: middle ear or auditory brainstem implant(s) now or planned within 6 months
  • Prospective part: any condition that would stop follow-up visits, or that the doctor judges makes the study wrong for the person

The registry criteria, word for word

Show all 9 criteriaShow less

Who can take part

  • 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 take part

  • 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
  • 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:

Where in United Kingdom

Also in 6 other countries, 9 sites

  • University College LondonLondon, United KingdomContact: Akouos Clinical TrialsTaking people

About the trial

What the trial wants to find out

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

The 2 groups in the trial

  • Retrospective

    Treatment: Natural History Study

  • Prospective

    Treatment: Natural History Study

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Plain-language title
Following people with hearing loss caused by changes in the otoferlin geneGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 14 November 2026.
Record updated
4 March 2026