Actively Recruiting
Genetic Causes of Discrepant Clinic in Monogenic Twins
Led by University Hospital Tuebingen · Updated on 2025-03-30
50
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying twins where one twin has a rare, unexplained disease and the other is healthy. This observational molecular-genetic study aims to identify new genetic causes behind these unclear diagnoses using advanced omics technologies and re-analysis of existing data. The study focuses on improving diagnosis for these twins with suspected genetic conditions. The study involves collecting blood samples for genetic testing from both twins in each pair. One twin is affected by the rare disease, while the other remains healthy. Data from genetic analyses and clinical observations will be shared within the University Hospital T fcbingen and with external collaborators to enhance understanding of these diseases. Participants will undergo blood sampling for genetic diagnostics and have their clinical information collected as part of routine care. Researchers will measure the number of new candidate genes, putative disease causes, and confirmed diagnoses discovered during the study. The total duration and detailed follow-up plans are based on standard clinical care and data sharing agreements, with a focus on improving diagnostic outcomes for rare genetic diseases in twins.
CONDITIONS
Brief Title
Genetic Causes of Discrepant Clinic in Monogenic Twins
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Twin pair monozygotic clinically (phenotypic) discordant twins
- Unclear diagnosis
- Suspected (mono-)genetic cause of the disease in one twin
You will not qualify if you...
- Missing informed consent of both twin or legal representative
- No distinct phenotype
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - 1 day
Participants undergo blood collection for genetic diagnostic to identify candidate genes and potential molecular causes of their condition.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
University Hospital Tübingen
Tübingen, Germany, 72076
Actively Recruiting
Research Team
J
Jeannette Hübener-Schmid, Dr.
A
Andreas Dufke, PD Dr.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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