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informationOtoferlin Registry
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.
In a collaboration between the Institute for Auditory Neuroscience and the Institute of Human Genetics at University Medical Center Goettingen, we have initiated a study wherein 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 at the links below. This also includes information about the processing of personal data.
- If the affected individual is an adult or a parent or legal guardian of an affected child, please access materials using this link: https://redcap.link/otoferlin_18
- If the affected individual is an adolescent (14-17 years), please access materials using this link: https://redcap.link/otoferlin_14-17
- If the affected individual is a child (10-13 years), please access materials using this link: https://redcap.link/otoferlin_10-13
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.