Health TrialsbyHealthPanel

Genetic Causes of Discrepant Clinic in Monogenic Twins

ConditionsRare DiseasesGenetic Predisposition to Disease
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

This trial does not accept healthy volunteers

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 population

Twin pair monozygotic clinically (phenotypic) discordant twins

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

  • NGS Diagnostic

    Genetic

    Blood take for genetic diagnostic.

Treatment groups

50 Participants
are divided into 2 treatment groups
Group A: Healthy twin1 intervention
Group B: Effected Twin1 intervention

Trial outcomes

Primary outcomes

1

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

Time frame
Day 1

Secondary outcomes

1

Number of putative disease causes

Number characterizations of the identified putative disease causes.

Time frame
Day 1
2

Number of diagnosis

Number of patients receiving appropriate therapy after successful diagnosis

Time frame
Day 1
3

Number of molecular causes of diagnostically unclear rare diseases

Number of molecular causes of diagnostically unclear rare diseases

Time frame
Day 1

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital Tuebingen

Lead sponsor

Source ClinicalTrials.gov
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