Otoferlin Patient Registry and Natural History Study
Recruiting
Observational Study
Otoferlin-related Auditory Synaptopathy
Hearing Impairment
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- Tobias Moser · Other
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About This Trial
This registry is designed to collect comprehensive information about the molecular genetic diagnoses of individuals with otoferlin-associated hearing impairment and clinical information to support a natural history study.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry
Exclusion Criteria:
* Patients with evidence of non-OTOF molecular genetic diagnoses
Contacts