Genetic Causes of Discrepant Clinic in Monogenic Twins

NCT ID: NCT04046796

Last Updated: 2025-03-30

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

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-12-01

Study Completion Date

2027-12-31

Brief Summary

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In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.

Detailed Description

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Conditions

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Rare Diseases Genetic Predisposition to Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Healthy twin

NGS Diagnostic

Intervention Type GENETIC

Blood take for genetic diagnostic.

Effected Twin

Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location.

NGS Diagnostic

Intervention Type GENETIC

Blood take for genetic diagnostic.

Interventions

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NGS Diagnostic

Blood take for genetic diagnostic.

Intervention Type GENETIC

Other Intervention Names

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Omics Technology

Eligibility Criteria

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Inclusion Criteria

* Twin pair monozygotic clinically (phenotypic) discordant twins
* Unclear diagnosis
* Suspected (mono-)genetic cause of the disease in one twin

Exclusion Criteria

* Missing informed consent of both twin/ legal representative
* No distinct phenotype
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital Tuebingen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jeannette Hübener-Schmid, Dr.

Role: PRINCIPAL_INVESTIGATOR

University Hospital Tübingen

Locations

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University Hospital Tübingen

Tübingen, , Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Jeannette Hübener-Schmid, Dr.

Role: CONTACT

+49 7071 29 ext. 72276

Andreas Dufke, PD Dr.

Role: CONTACT

+49 7071 29 ext. 86413

Facility Contacts

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Jeannette Hübener-Schmid, Dr.

Role: primary

+49 7071-297 ext. 2276

Andreas Dufke, PD Dr.

Role: backup

+49 7071-297 ext. 2190

Other Identifiers

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DISCO-TWIN

Identifier Type: -

Identifier Source: org_study_id

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