CABP2-related Auditory SynaptopathyNCT06680934
CABP2 Patient Registry and Natural History Study
An observational study of CABP2-related Auditory Synaptopathy and Hearing Impairment, run by University Medical Center Goettingen at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- CABP2-related Auditory Synaptopathy, Hearing Impairment
- What is being tested?
- Molecular genetic testing and audiometry
- How many people
- 100 participants
- Where
- 1 siteGermany
- Study dates
- 16 Aug 2024to 16 Aug 2049
- How long will I take part?
- 25 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2
Who may be able to join
- A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry
Who cannot join
- Patients with evidence of non-CABP2 molecular genetic diagnoses
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Medical Center Goettingen
Göttingen, 37075
Barbara Vona, PhD, +49-551-38-51337, barbara.vona@med.uni-goettingen.de
Tobias Moser, MD, +49-551-39-63070, tmoser@gwdg.de
About this study
Official title: Patient Registry for Individuals With CABP2-Associated Hearing Loss
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.
Read the 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.
- Being tested
- Molecular genetic testing and audiometry
- Keywords
- CABP2 patient registry, Patient registry, DFNB93
- Medical subject headings
- Hearing Loss
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Molecular genetic testing and audiometryDiagnostic test
Genetic testing and audiometry are the interventions of interest
| Study group | Role | What they receive |
|---|---|---|
| CABP2 participant group | Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2 Receives: Diagnostic Test: Molecular genetic testing and audiometry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Pure-tone audiometry
Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels
Measured: 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
Measured: 1 year, year 1, according to participant consent
Secondary outcomes (2)
Otoacoustic emission thresholds
Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea
Measured: 1 year, year 1, according to participant consent
Auditory brainstem response
Auditory brainstem response tests the functional status of the auditory neural pathway
Measured: 1 year, year 1, according to participant consent
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Nov 2024
- Study start16 Aug 2024
- Primary completion16 Aug 2049 (estimated)
- Study completion16 Aug 2049 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for CABP2-related Auditory SynaptopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
- Target duration
- 25 Years
Sponsor and investigators
- Lead sponsor
- University Medical Center Goettingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Tobias Moser, University Medical Center Goettingen
- Investigators
- Tobias Moser, MD, Study director, University Medical Center GoettingenBernd Wollnik, MD, Principal investigator, University Medical Center GoettingenNicola Strenzke, MD, Principal investigator, University Medical Center GoettingenBarbara Vona, PhD, Principal investigator, University Medical Center Goettingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06680934
- Sponsor's protocol ID
- 17/8/22 v2.1 - 2023-02528
- Status last verified
- Jan 2026
- First submitted
- 3 Nov 2024
- Last updated
- 27 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Pseudonymized data will be published in publications
Publications
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.
PubMed 40927552
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Patient Registry for Individuals With CABP2-Associated Hearing Loss
- ClinicalTrials.gov ID
- NCT06680934
- Acronym / sponsor ID
- 17/8/22 v2.1 - 2023-02528
- Keywords
- CABP2 patient registry, Patient registry, DFNB93
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Medical Center GoettingenUniversity, hospital or other
- Study start
- 16 Aug 2024 (actual)
- Primary completion
- 16 Aug 2049 (estimated)
- Study completion
- 16 Aug 2049 (estimated)
- First posted
- 8 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Target follow-up
- 25 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CABP2 participant group | – | Diagnostic Test: Molecular genetic testing and audiometryIndividuals with hearing impairment who have a molecular genetic diagnosis involving CABP2 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2
Key inclusion criteria (1 listed)
- A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry
Key exclusion criteria (1 listed)
- Patients with evidence of non-CABP2 molecular genetic diagnoses
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Molecular genetic testing and audiometryGenetic testing and audiometry are the interventions of interest | Diagnostic test | CABP2 participant group |
Primary outcome
Pure-tone audiometry
Time frame: 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
Time frame: 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
2 secondary outcomes
Otoacoustic emission thresholds
Time frame: 1 year, year 1, according to participant consent
Auditory brainstem response
Time frame: 1 year, year 1, according to participant consent
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2026.
- Results publication: PubMed 40927552Vona 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.
- Registry website in EnglishLink provided by the sponsor.
- Registry website in GermanLink provided by the sponsor.
- Individual participant dataSharing planned: No. Pseudonymized data will be published in publications
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tobias Moser, MD study director
University Medical Center Goettingen
Bernd Wollnik, MD principal investigator
University Medical Center Goettingen
Nicola Strenzke, MD principal investigator
University Medical Center Goettingen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CABP2-related Auditory Synaptopathy and Hearing Impairment, run by University Medical Center Goettingen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Barbara Vona, PhD (+49-551-38-51337, barbara.vona@med.uni-goettingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Pure-tone audiometry (time frame: 1 year, year 1, according to participant consent). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06680934, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jan 2026.