Investigating genetic causes in twins with different health outcomes
Genetic Causes of Discrepant Clinic in Monogenic Twins
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 |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Trial ID | NCT04046796 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients without a distinct phenotype or those unable to provide informed consent will not benefit from this study.
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 performed: 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.
Eligibility criteria
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 this trial is running
Tübingen
- University Hospital Tübingen — Tübingen, Germany (Recruiting)
Study contacts
- Principal investigator: Jeannette Hübener-Schmid, Dr. — University Hospital Tübingen
- Study coordinator: Jeannette Hübener-Schmid, Dr.
- Email: jeannette.huebener@med.uni-tuebingen.de
- Phone: +49 7071 29
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.