Otoferlin Patient Registry and Natural History Study

Hearing Impairment Clinical Trial

Official title:

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05946057
• Other study ID #: 17/8/22 - 2023-02528
• Status: Recruiting
• Start date: February 21, 2023
• Est. completion date: February 21, 2048

Study information

• Verified date: November 2023
• Source: University Medical Center Goettingen
• Contact: Barbara Vona, PhD
• Phone: +49-551-39-65128
• Email: barbara.vona[@]med.uni-goettingen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: February 21, 2048
• Est. primary completion date: February 21, 2048
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Deafness
• Hearing Impairment
• Hearing Loss

Intervention

Diagnostic Test:
• Molecular genetic testing and audiometry
Genetic testing and audiometry are the interventions of interest

Locations

Country	Name	City	State
Germany	University Medical Center Goettingen	Goettigen	Lower Saxony

Sponsors (1)

Lead Sponsor	Collaborator
Tobias Moser

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Pure-tone audiometry	Audiological characteristics	1 year, year 1, according to participant consent
Primary	Speech audiometry	Audiological characteristics	1 year, year 1, according to participant consent
Secondary	Otoacoustic emission thresholds	Electrophysiological characteristics	1 year, year 1, according to participant consent
Secondary	Auditory brainstem response	Electrophysiological characteristics	1 year, year 1, according to participant consent

External Links

•   Registry website in English
•   Registry website in German