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DISCO-TWIN: Genetic Causes of Discrepant Clinic in Monogenic Twins

Sponsor
University Hospital Tuebingen (Other)
Overall Status
Recruiting
CT.gov ID
NCT04046796
Collaborator
(none)
50
Enrollment
1
Location
84
Anticipated Duration (Months)
0.6
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase
  • Genetic: NGS Diagnostic

Study Design

Study Type:
Observational
Anticipated Enrollment :
50 participants
Observational Model:
Case-Control
Time Perspective:
Prospective
Official Title:
Genetic Causes of Discrepant Clinic in Monogenic Twins
Actual Study Start Date :
Dec 1, 2019
Anticipated Primary Completion Date :
Dec 1, 2025
Anticipated Study Completion Date :
Dec 1, 2026

Arms and Interventions

Arm 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

    		•

    Outcome Measures

    Primary Outcome Measures

    1. Number of new Candidate Genes [Day 1]

      Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins

    Secondary Outcome Measures

    1. Number of putative disease causes [Day 1]

      Number characterizations of the identified putative disease causes.

    2. Number of diagnosis [Day 1]

      Number of patients receiving appropriate therapy after successful diagnosis

    3. Number of molecular causes of diagnostically unclear rare diseases [Day 1]

      Number of molecular causes of diagnostically unclear rare diseases

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 University Hospital Tübingen Tübingen Germany 72076

    Sponsors and Collaborators

    • University Hospital Tuebingen

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    University Hospital Tuebingen
    ClinicalTrials.gov Identifier:
    NCT04046796
    Other Study ID Numbers:
    • DISCO-TWIN
    First Posted:
    Aug 6, 2019
    Last Update Posted:
    Nov 5, 2020
    Last Verified:
    Nov 1, 2020
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by University Hospital Tuebingen
    Rare Diseases
    Genetic Predisposition
    Omics Technology
    Next Generation Sequencing (NGS)
    Additional relevant MeSH terms:
    Rare Diseases
    Disease Susceptibility
    Genetic Predisposition to Disease

    Study Results

    No Results Posted as of Nov 5, 2020