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.
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.
Study Type
OBSERVATIONAL
Enrollment
100
Genetic testing and audiometry are the interventions of interest
University Medical Center Goettingen
Göttingen, Germany
RECRUITINGPure-tone audiometry
Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels
Time frame: 1 year, year 1, according to participant consent
Speech audiometry
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
Time frame: 1 year, year 1, according to participant consent
Otoacoustic emission thresholds
Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea
Time frame: 1 year, year 1, according to participant consent
Auditory brainstem response
Auditory brainstem response tests the functional status of the auditory neural pathway
Time frame: 1 year, year 1, according to participant consent
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.