Clinical trial NCT05946057: Otoferlin Patient Registry and Natural History Study
Official title: Patient Registry for Individuals With Otoferlin-Associated Hearing Loss
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Otoferlin-related Auditory Synaptopathy
Hearing Impairment
Keywords: Otoferlin patient registry
Natural history study
Lead sponsor: University Medical Center Goettingen
Sponsor class: OTHER
First posted: 2023-07-14
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with hearing impairment who have a molecular geneic diagnosis involving otoferlin

Brief summary: 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.

Detailed description: A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in otoferlin (OTOF). The study is conducted in accordance with the current version of the Declaration of Helsinki. The study protocol and database structure have been approved by the Ethics Committee of the University Medical Center Göttingen.

Main objective criterion:

To increase understanding of natural history, types of genetic variants and to facilitate clinical and basic research on otoferlin-associated hearing impairment.

Secondary objective criterion:

To improve knowledge to better characterize individuals with otoferlin-associated hearing impairment in the long term and create prerequisites for improved, patient tailored therapy and care.

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

Primary outcomes:
measure: Pure-tone audiometry
timeFrame: 1 year, year 1, according to participant consent
measure: Speech audiometry
timeFrame: 1 year, year 1, according to participant consent
Secondary outcomes:
measure: Otoacoustic emission thresholds
timeFrame: 1 year, year 1, according to participant consent
measure: Auditory brainstem response
timeFrame: 1 year, year 1, according to participant consent
Other outcomes:
Locations:
city: Goettigen
country: Germany
facility: University Medical Center Goettingen
state: Lower Saxony
Study officials:
affiliation: University Medical Center Goettingen
name: Tobias Moser, MD
role: STUDY_DIRECTOR
affiliation: University Medical Center Goettingen
name: Bernd Wollnik, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University Medical Center Goettingen
name: Nicola Strenzke, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University Medical Center Goettingen
name: Barbara Vona, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Vona B, Wollnik B, Strenzke N, Moser T. Catching up but still miles behind-a patient registry for otoferlin. Exp Mol Med. 2024 Jun;56(6):1472-1473. doi: 10.1038/s12276-024-01247-6. Epub 2024 Jun 3. No abstract available.