CABP2-related Auditory Synaptopathy, Hearing Impairment
Conditions
Keywords
CABP2 patient registry, Patient registry, DFNB93
Brief summary
This registry is designed to collect comprehensive information about the molecular genetic diagnoses and clinical information of individuals with CABP2-associated hearing impairment to support a natural history study.
Detailed description
A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in CABP2. 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 Goettingen.
Interventions
DIAGNOSTIC_TESTMolecular genetic testing and audiometry
Genetic testing and audiometry are the interventions of interest
Sponsors
University Medical Center Goettingen
Study design
Observational model
CASE_ONLY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry
Exclusion criteria
* Patients with evidence of non-CABP2 molecular genetic diagnoses
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pure-tone audiometry | 1 year, year 1, according to participant consent | Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels |
| Speech audiometry | 1 year, year 1, according to participant consent | Speech audiometry is a test or series of tests to determine a patient's ability to discriminate speech sounds and hearing speech or speech in noise |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Otoacoustic emission thresholds | 1 year, year 1, according to participant consent | Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea |
| Auditory brainstem response | 1 year, year 1, according to participant consent | Auditory brainstem response tests the functional status of the auditory neural pathway |
Countries
Germany
Contacts
CONTACTBarbara Vona, PhD
CONTACTTobias Moser, MD
STUDY_DIRECTORTobias Moser, MD
University Medical Center Goettingen
PRINCIPAL_INVESTIGATORBernd Wollnik, MD
University Medical Center Goettingen
PRINCIPAL_INVESTIGATORNicola Strenzke, MD
University Medical Center Goettingen
PRINCIPAL_INVESTIGATORBarbara Vona, PhD
University Medical Center Goettingen
Outcome results
None listed