Otoferlin Patient Registry and Natural History Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorTobias Moser
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry
Disqualifiers
Patients with evidence of non-OTOF molecular genetic diagnoses
Trial population
Individuals with hearing impairment who have a molecular geneic diagnosis involving otoferlin
Trial design
Design model
Case-only
Time perspective
Other
Treatments tested in this trial
Molecular genetic testing and audiometry
Diagnostic testGenetic testing and audiometry are the interventions of interest
Treatment groups
100 Participants
are divided into 1 treatment groupGroup A: Otoferlin participant group1 intervention
Trial outcomes
Primary outcomes
1
Pure-tone audiometry
Audiological characteristics
Time frame
1 year, year 1, according to participant consent2
Speech audiometry
Audiological characteristics
Time frame
1 year, year 1, according to participant consentSecondary outcomes
1
Otoacoustic emission thresholds
Electrophysiological characteristics
Time frame
1 year, year 1, according to participant consent2
Auditory brainstem response
Electrophysiological characteristics
Time frame
1 year, year 1, according to participant consentLocations
1Map coordinates are unavailable for these locations. Locations are shown below instead.
University Medical Center GoettingenRecruiting37075, Goettigen, Lower Saxony
Germany
GermanySponsors and contacts
Click on the lead sponsor to view all of their trials.
Tobias Moser
Lead sponsor
University Medical Center Goettingen
Sponsor institution
Source ClinicalTrials.gov