Genetic Causes of Discrepant Clinic in Monogenic Twins (DISCO-TWIN)

March 25, 2025 updated by: University Hospital Tuebingen
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Twin pair monozygotic clinically (phenotypic) discordant twins

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy twin
Genetic: NGS Diagnostic
Blood take for genetic diagnostic.
Other Names:
  • Omics Technology
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:
  • Omics Technology

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of new Candidate Genes
Time Frame: Day 1
Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins
Day 1

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of putative disease causes
Time Frame: Day 1
Number characterizations of the identified putative disease causes.
Day 1
Number of diagnosis
Time Frame: Day 1
Number of patients receiving appropriate therapy after successful diagnosis
Day 1
Number of molecular causes of diagnostically unclear rare diseases
Time Frame: Day 1
Number of molecular causes of diagnostically unclear rare diseases
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital Tuebingen

Investigators

  • Principal Investigator: Jeannette Hübener-Schmid, Dr., University Hospital Tübingen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2019

Primary Completion (Estimated)

December 1, 2025

Study Completion (Estimated)

December 1, 2027

Study Registration Dates

First Submitted

August 2, 2019

First Submitted That Met QC Criteria

August 2, 2019

First Posted (Actual)

August 6, 2019

Study Record Updates

Last Update Posted (Actual)

March 30, 2025

Last Update Submitted That Met QC Criteria

March 25, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DISCO-TWIN

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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