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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Healthy twin |
| ||
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| NGS Diagnostic | Genetic | Blood take for genetic diagnostic. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of new Candidate Genes | Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Number of putative disease causes | Number characterizations of the identified putative disease causes. | Day 1 |
| Number of diagnosis | Number of patients receiving appropriate therapy after successful diagnosis |
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Inclusion Criteria:
Exclusion Criteria:
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Twin pair monozygotic clinically (phenotypic) discordant twins
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jeannette Hübener-Schmid, Dr. | Contact | +49 7071 29 | 72276 | jeannette.huebener@med.uni-tuebingen.de |
| Andreas Dufke, PD Dr. | Contact | +49 7071 29 | 86413 | andreas.dufke@med.uni-tuebingen.de |
| Name | Affiliation | Role |
|---|---|---|
| Jeannette Hübener-Schmid, Dr. | University Hospital Tübingen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Tübingen | Recruiting | Tübingen | 72076 | Germany |
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| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D004198 | Disease Susceptibility |
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Blood sampling for NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures).
| Day 1 |
| Number of molecular causes of diagnostically unclear rare diseases | Number of molecular causes of diagnostically unclear rare diseases | Day 1 |