DISCO-TWIN: Genetic Causes of Discrepant Clinic in Monogenic Twins
Study Details
Study Description
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.
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Healthy twin
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Genetic: NGS Diagnostic
Blood take for genetic diagnostic.
Other Names:
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Effected Twin Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location. |
Genetic: NGS Diagnostic
Blood take for genetic diagnostic.
Other Names:
|
Outcome Measures
Primary Outcome Measures
- 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
- 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
Eligibility Criteria
Criteria
Inclusion Criteria:
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Twin pair monozygotic clinically (phenotypic) discordant twins
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Unclear diagnosis
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Suspected (mono-)genetic cause of the disease in one twin
Exclusion Criteria:
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Missing informed consent of both twin/ legal representative
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No distinct phenotype
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | University Hospital Tübingen | Tübingen | Germany | 72076 |
Sponsors and Collaborators
- University Hospital Tuebingen
Investigators
- Principal Investigator: Jeannette Hübener-Schmid, Dr., University Hospital Tübingen
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- DISCO-TWIN