Genetic Causes of Discrepant Clinic in Monogenic Twins

NCT04046796 · tracked via the Priya Life Science Germany tracker

Sponsor

University Hospital Tuebingen

Phase

Observational

Started

2019-12-01

Last updated

2025-03-30

Condition(s) studied

Rare DiseasesGenetic Predisposition to Disease

Investigational drug(s) / intervention(s)

NGS Diagnostic

NGS Diagnostic: Blood take for genetic diagnostic.

Study 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.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

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

Primary outcome measure(s)

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

Trial sites (1)

Facility	City	Region	Status
University Hospital Tübingen	Tübingen	Germany	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04046796 on ClinicalTrials.gov ↗ ← All trials in Germany