Genetic Causes of Discrepant Clinic in Monogenic Twins

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity Hospital Tuebingen

About this trial

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.

Eligibility criteria

Qualifiers

Twin pair monozygotic clinically (phenotypic) discordant twins

Unclear diagnosis

Suspected (mono-)genetic cause of the disease in one twin

Disqualifiers

Missing informed consent of both twin/ legal representative

No distinct phenotype

Trial design

Treatments tested in this trial

  • NGS Diagnostic

Treatment groups

50 Participants
are divided into 2 treatment groups

Sponsors and collaborators