Patient Registry for Individuals With Otoferlin-Associated Hearing Loss
Conditions: Otoferlin-related Auditory Synaptopathy, Hearing Impairment
Sponsor: Tobias Moser

 
 
“Otoferlin Patient Registry”  
“Hereditary Hearing Impairment Patient Registry” Version 1.1, 01.02.2025 
 
1/1 
 
ClinicalTrials.gov Identifier: NCT05946057 
 
 
May 17th, 2025 
 
Patient Registry for Individuals with Otoferlin-Associated Hearing Loss   
What is the Otoferlin Registry? 
The Otoferlin Registry collects clinical information (various hearing tests and medical information) as 
well as genetic (otoferlin, OTOF) mutation details for research and therapy development. Through 
consent and participation, the Otoferlin Registry aims to advance scientific knowledge by connecting 
(pseudonymized) patient data with scientists at the Institute for Auditory Neuroscience at University 
Medical Center Goettingen who have shown decades-long interest in understanding the 
mechanisms of several forms of hereditary hearing impairment, among which includes otoferlin.  
 
The Institute of Auditory Neuroscience and Institute of Human Genetics at University Medical Center 
Goettingen are collaborating to initiate a study in which we aim to collect and evaluate the clinical 
and genetic findings of individuals with mutations in the otoferlin gene. This will allow us to better 
understand the relationship between mutations and hearing loss and to improve patient care as new 
therapies are optimized. To support this goal, we have established a patient registry for voluntary 
participation and sharing of clinical and genetic information in questionnaire form. 
 
This registry study was approved by the Ethics Committee of the University Medical Center 
Goettingen (Approval: 17/8/22; Study Center ID: 2023-02528). 
 
Who can participate in the Otoferlin Registry? 
The Otoferlin Registry is open to the global otoferlin community that includes parents and legal 
guardians, as well as individuals who have been diagnosed with hearing impairment due to otoferlin 
mutations. 
 
Where can participants find out more information? 
We invite prospective participants to review detailed study information and submit consent. This also 
includes information about the processing of personal data. This can be found here: 
http://www.auditory-neuroscience.uni-goettingen.de/otoferlin_registry.html  
 
Who can participants contact for more information? 
If you have questions or would like further clarification about the procedure, please contact the study 
manager, Dr. Barbara Vona via email: barbara.vona@med.uni-goettingen.de 
 
Project manager: 
Dr. Barbara Vona 
Institute for Auditory Neuroscience 
Robert-Koch-Str. 40 
37075 Göttingen, Germany 
Tel: (+49) 551-38-51337 
Email: barbara.vona@med.uni-goettingen.de 
 
 Institute for Auditory Neuroscience
Director: Prof. Dr. Tobias Moser
Robert-Koch-Str. 40, 37075 Göttingen, Germany
Department of Otolaryngology
Prof. Dr. med. Nicola Strenzke
Robert-Koch-Str. 40, 37075 Göttingen, Germany
Institute of Human Genetics
Director: Prof. Dr. med. Bernd Wollnik
Heinrich-Düker-Weg 12, 37073 Göttingen, Germany