CABP2 Patient Registry and Natural History Study

NCT ID: NCT06680934

Last Updated: 2026-01-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-08-16

Study Completion Date

2049-08-16

Brief Summary

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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.

Detailed Description

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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.

Conditions

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CABP2-related Auditory Synaptopathy Hearing Impairment

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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CABP2 participant group

Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2

Molecular genetic testing and audiometry

Intervention Type DIAGNOSTIC_TEST

Genetic testing and audiometry are the interventions of interest

Interventions

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Molecular genetic testing and audiometry

Genetic testing and audiometry are the interventions of interest

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry

Exclusion Criteria

* Patients with evidence of non-CABP2 molecular genetic diagnoses
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Medical Center Goettingen

OTHER

Sponsor Role lead

Responsible Party

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Tobias Moser

Prof.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Tobias Moser, MD

Role: STUDY_DIRECTOR

University Medical Center Goettingen

Bernd Wollnik, MD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Nicola Strenzke, MD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Barbara Vona, PhD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Locations

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University Medical Center Goettingen

Göttingen, , Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Barbara Vona, PhD

Role: CONTACT

+49-551-38-51337

Tobias Moser, MD

Role: CONTACT

+49-551-39-63070

Facility Contacts

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Barbara Vona, PhD

Role: primary

+49-551-38-51337

Tobias Moser, MD

Role: backup

+49-551-39-63070

References

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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.

Reference Type RESULT
PMID: 40927552 (View on PubMed)

Provided Documents

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Document Type: Study Protocol

View Document

Related Links

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Other Identifiers

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17/8/22 v2.1 - 2023-02528

Identifier Type: -

Identifier Source: org_study_id

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