Registry for patients with otoferlin-related hearing impairment
Patient Registry for Individuals With Otoferlin-Associated Hearing Loss
This study is collecting information from people with otoferlin-related hearing loss to better understand the condition and help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | University Medical Center Goettingen Academic / other |
| Locations | 1 site (Goettigen, Lower Saxony) |
| Trial ID | NCT05946057 on ClinicalTrials.gov |
What this trial studies
This registry collects detailed information about individuals diagnosed with otoferlin-related auditory synaptopathy and hearing impairment. It aims to gather molecular genetic data and clinical information to support a natural history study of the condition. Conducted in both German and English, the study follows ethical guidelines and has received approval from the University Medical Center Göttingen's Ethics Committee. The primary goal is to enhance understanding of the condition and facilitate future research and tailored therapies.
Who should consider this trial
Good fit: Ideal candidates are individuals with a confirmed molecular genetic diagnosis of otoferlin-related hearing impairment.
Not a fit: Patients with hearing impairment due to non-otoferlin genetic causes will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could lead to improved diagnosis and personalized treatment options for patients with otoferlin-related hearing impairment.
How similar studies have performed: While this approach is focused on a specific genetic condition, similar registries have successfully advanced understanding and treatment of other hereditary conditions.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Goettigen, Lower Saxony
- University Medical Center Goettingen — Goettigen, Lower Saxony, Germany (Recruiting)
Study contacts
- Principal investigator: Bernd Wollnik, MD — University Medical Center Goettingen
- Study coordinator: Barbara Vona, PhD
- Email: barbara.vona@med.uni-goettingen.de
- Phone: +49-551-38-51337
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.