Genetic Causes of Discrepant Clinic in Monogenic Twins

Recruiting

• Conditions: Genetic Predisposition to Disease; Rare Diseases
• Interventions: Genetic: NGS Diagnostic

• Registration Number: NCT04046796
• Lead Sponsor: University Hospital Tuebingen

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2019-08-02
• Study First Submitted QC: 2019-08-02
• Study First Posted: 2019-08-06
• Study Start: 2019-12-01
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-25
• Last Update Posted: 2025-03-30
• Primary Completion: 2025-12
• Study Completion: 2027-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Effected Twin	NGS Diagnostic	Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location.
Healthy twin	NGS Diagnostic	-

Primary Outcome Measures

Name	Time	Method
Number of new Candidate Genes	Day 1	Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins

Secondary Outcome Measures

Name	Time	Method
Number of putative disease causes	Day 1	Number characterizations of the identified putative disease causes.
Number of diagnosis	Day 1	Number of patients receiving appropriate therapy after successful diagnosis
Number of molecular causes of diagnostically unclear rare diseases	Day 1	Number of molecular causes of diagnostically unclear rare diseases

Trial Locations

Locations (1)

University Hospital Tübingen; 🇩🇪 Tübingen, Germany