Genetic Causes of Discrepant Clinic in Monogenic Twins

Genetic Causes of Discrepant Clinic in Monogenic Twins


Lead Sponsor: University Hospital Tuebingen

Source University Hospital Tuebingen
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.

Overall Status Not yet recruiting
Start Date December 2019
Completion Date December 2026
Primary Completion Date December 2025
Study Type Observational
Primary Outcome
Measure Time Frame
Number of new Candidate Genes Day 1
Secondary Outcome
Measure Time Frame
Number of putative disease causes Day 1
Number of diagnosis Day 1
Number of molecular causes of diagnostically unclear rare diseases Day 1
Enrollment 50

Intervention Type: Genetic

Intervention Name: NGS Diagnostic

Description: Blood take for genetic diagnostic.

Other Name: Omics Technology


Sampling Method: Probability Sample


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

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Overall Contact

Last Name: Jeannette Hübener-Schmid

Phone: +49 7071 29

Phone Ext.: 72276

Email: [email protected]

Verification Date

August 2019

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Arm Group

Label: Healthy twin

Label: Effected Twin

Description: Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location.

Patient Data No
Study Design Info

Observational Model: Case-Control

Time Perspective: Prospective