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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CABP2 participant group | Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Molecular genetic testing and audiometry | Diagnostic Test | Genetic testing and audiometry are the interventions of interest |
|
| Measure | Description | Time Frame |
|---|---|---|
| Pure-tone audiometry | Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels | 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 | 1 year, year 1, according to participant consent |
| Measure | Description | Time Frame |
|---|---|---|
| Otoacoustic emission thresholds | Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea | 1 year, year 1, according to participant consent |
| Auditory brainstem response |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Barbara Vona, PhD | Contact | +49-551-38-51337 | barbara.vona@med.uni-goettingen.de | |
| Tobias Moser, MD | Contact | +49-551-39-63070 | tmoser@gwdg.de |
| Name | Affiliation | Role |
|---|---|---|
| Tobias Moser, MD | University Medical Center Goettingen | Study Director |
| Bernd Wollnik, MD | University Medical Center Goettingen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Medical Center Goettingen | Recruiting | Göttingen | 37075 | Germany |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40927552 | Result | Vona B, Wollnik B, Strenzke N, Pangrsic T, Moser T. Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry. MedComm (2020). 2025 Sep 8;6(9):e70363. doi: 10.1002/mco2.70363. eCollection 2025 Sep. |
| Label | URL |
|---|---|
| Registry website in English | View source |
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Pseudonymized data will be published in publications
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | May 16, 2025 | May 16, 2025 | Prot_000.pdf |
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| ID | Term |
|---|---|
| D034381 | Hearing Loss |
| ID | Term |
|---|---|
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D012678 | Sensation Disorders |
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| ID | Term |
|---|---|
| D001299 | Audiometry |
| ID | Term |
|---|---|
| D006320 | Hearing Tests |
| D003939 | Diagnostic Techniques, Otological |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Auditory brainstem response tests the functional status of the auditory neural pathway
| 1 year, year 1, according to participant consent |
| Nicola Strenzke, MD |
| University Medical Center Goettingen |
| Principal Investigator |
| Barbara Vona, PhD | University Medical Center Goettingen | Principal Investigator |
| Registry website in German | View source |
| D009461 |
| Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |