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NCT04046796 Clinical Trial

Genetic Causes of Discrepant Clinic in Monogenic Twins

Rare Diseases Clinical Trial

— DISCO-TWIN  

Official title:
Genetic Causes of Discrepant Clinic in Monogenic Twins

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT04046796
Other study ID # DISCO-TWIN
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date December 1, 2019
Est. completion date December 2026

Study information
Verified date November 2023
Source University Hospital Tuebingen
Contact Jeannette Hübener-Schmid, Dr.
Phone +49 7071 29
Email jeannette.huebener@med.uni-tuebingen.de
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 50
Est. completion date December 2026
Est. primary completion date December 2025
Accepts healthy volunteers
Gender All
Age group N/A and older
Eligibility 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

Study Design

Related Conditions & MeSH terms

Intervention

Genetic:
• NGS Diagnostic
Blood take for genetic diagnostic.

Locations
Country Name City State
Germany University Hospital Tübingen Tübingen

Sponsors (1)
Lead Sponsor Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome
Type Measure Description Time frame Safety issue
Primary Number of new Candidate Genes Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins Day 1
Secondary Number of putative disease causes Number characterizations of the identified putative disease causes. Day 1
Secondary Number of diagnosis Number of patients receiving appropriate therapy after successful diagnosis Day 1
Secondary Number of molecular causes of diagnostically unclear rare diseases Number of molecular causes of diagnostically unclear rare diseases Day 1
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