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NCT Number: NCT04046796

Genetic Causes of Discrepant Clinic in Monogenic Twins

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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Key information

Conditions

Rare Diseases Disease Attributes Disease Susceptibility Genetic Predisposition to Disease Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

NGS Diagnostic

Genetic

Blood take for genetic diagnostic.

Other names: Omics Technology

Primary outcomes

  1. 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

Secondary outcomes

  1. Number of putative disease causes

    Time frame: Day 1

    Number characterizations of the identified putative disease causes.

  2. Number of diagnosis

    Time frame: Day 1

    Number of patients receiving appropriate therapy after successful diagnosis

  3. Number of molecular causes of diagnostically unclear rare diseases

    Time frame: Day 1

    Number of molecular causes of diagnostically unclear rare diseases

Study contacts

Contact information is provided by the study sponsor or research team.

Andreas Dufke, PD Dr.

CONTACT

[email protected]

+49 7071 29 ext. 86413

Jeannette Hübener-Schmid, Dr.

CONTACT

[email protected]

+49 7071 29 ext. 72276

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Acronym: DISCO-TWIN

Important dates

Study start
2019
Primary completion
2025
Study completion
2027
First posted
Aug 6, 2019
Registry last updated
Mar 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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