Otoferlin Patient Registry and Natural History Study

Sponsor

Tobias Moser (Other)

Overall Status

Recruiting

CT.gov ID

NCT05946057

Collaborator

(none)

100

Enrollment

Location

300

Anticipated Duration (Months)

0.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Otoferlin-related Auditory Synaptopathy Hearing Impairment	Diagnostic Test: Molecular genetic testing and audiometry

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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

100 participants

Observational Model:

Case-Only

Time Perspective:

Other

Official Title:

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

Actual Study Start Date :

Feb 21, 2023

Anticipated Primary Completion Date :

Feb 21, 2048

Anticipated Study Completion Date :

Feb 21, 2048

Arms and Interventions

Arm	Intervention/Treatment
Otoferlin participant group Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin	Diagnostic Test: Molecular genetic testing and audiometry Genetic testing and audiometry are the interventions of interest

Arm

Intervention/Treatment

Otoferlin participant group

Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin

Diagnostic Test: Molecular genetic testing and audiometry

Genetic testing and audiometry are the interventions of interest

Outcome Measures

Primary Outcome Measures

Pure-tone audiometry [1 year, year 1, according to participant consent]
Audiological characteristics
Speech audiometry [1 year, year 1, according to participant consent]
Audiological characteristics

Secondary Outcome Measures

Otoacoustic emission thresholds [1 year, year 1, according to participant consent]
Electrophysiological characteristics
Auditory brainstem response [1 year, year 1, according to participant consent]
Electrophysiological characteristics

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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 and Locations

Locations

	Site	City	State	Country	Postal Code
1	University Medical Center Goettingen	Goettigen	Lower Saxony	Germany	37075

Sponsors and Collaborators

Tobias Moser

Investigators

Study Director: Tobias Moser, MD, University Medical Center Goettingen
Principal Investigator: Bernd Wollnik, MD, University Medical Center Goettingen
Principal Investigator: Nicola Strenzke, MD, University Medical Center Goettingen
Principal Investigator: Barbara Vona, PhD, University Medical Center Goettingen