Investigating genetic causes in twins with different health outcomes
Official title: Genetic Causes of Discrepant Clinic in Monogenic Twins
Run by University Hospital Tuebingen · NCT04046796 · Data updated 2026-11-12
This study is trying to find out what genetic differences might explain why one twin is healthy while the other has an undiagnosed disease.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Status | Recruiting |
| Started | December 1, 2019 |
| Main results expected | December 2025 |
| Study ends | December 2027 |
| Registry record updated | March 30, 2025 |
| Trial ID | NCT04046796 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are monozygotic twin pairs where one twin is healthy and the other has an unclear diagnosis suspected to have a genetic cause.
✕Probably not a fit
Patients without a distinct phenotype or those unable to provide informed consent will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The DISCO-TWIN study focuses on analyzing monozygotic twin pairs where one twin is healthy and the other is affected by a molecularly undiagnosed disease. Using advanced omics technologies, including next-generation sequencing (NGS), the study aims to identify genetic predispositions that may explain the health discrepancies between the twins. Data on phenotypes and genetic information will be shared within the University Hospital Tübingen and with external collaborators to enhance diagnostic accuracy for the participants. This observational study seeks to improve understanding of rare diseases and their genetic underpinnings.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic rates for patients with rare genetic diseases.
How similar studies have gone: While the approach of using omics technologies in twin studies is promising, the specific application in this context is relatively novel and has not been extensively tested.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
University Hospital Tübingen
Tübingen, Germany Recruiting
Study contacts
- Principal investigator: Jeannette Hübener-Schmid, Dr. — University Hospital Tuebingen
- Study coordinator: Jeannette Hübener-Schmid, Dr.
- Email: jeannette.huebener@med.uni-tuebingen.de
- Phone: +49 7071 29
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.