Otoferlin Gene-mediated Hearing Loss Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Natural History Study.
- Who it may be relevant to
- Registry conditions: Sensorineural Hearing Loss, Bilateral. Basic parameters: up to 44 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Australia, Germany, Spain, Taiwan +2
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Overview
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
Interventions
- Other Natural History Study
Natural History Study
Primary outcome measures
- ABR [Time frame: First audiologic data in participant medical record through five-year prospective follow up]
Secondary outcome measures (1)
- OAE [Time frame: First audiologic data in participant medical record through the five-year prospective follow up]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United States · 4 centers
- University of Iowa — Iowa City
- Cincinnati Children's Hospital Medical Center — Cincinnati
- Children's Hospital of Philadelphia — Philadelphia
- Vanderbilt University Medical Center — Nashville
Australia · 1 center
- Murdoch Children's Research Institute — Parkville
Germany · 1 center
- University Hospital in Tübingen — Tübingen
Spain · 1 center
- Sant Joan de Déu Barcelona Hospital — Esplugues de Llobregat
Taiwan · 1 center
- National Taiwan University Hospital — Taipei
Turkey (Türkiye) · 1 center
- Ankara University — Ankara
United Kingdom · 1 center
- University College London — London
Identifiers
NCT: NCT05572073 · AK-OTOF-NHS-002