Menu
Recruiting NCT04046796

Genetic Causes of Discrepant Clinic in Monogenic Twins

— Observational Rare Diseases Genetic Predisposition to Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: NGS Diagnostic.
Who it may be relevant to
Registry conditions: Rare Diseases, Genetic Predisposition to Disease. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Germany
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • Genetic NGS Diagnostic
    Blood take for genetic diagnostic.

Primary outcome measures

  • Number of new Candidate Genes [Time frame: Day 1]
Secondary outcome measures (3)
  • Number of putative disease causes [Time frame: Day 1]
  • Number of diagnosis [Time frame: Day 1]
  • Number of molecular causes of diagnostically unclear rare diseases [Time frame: Day 1]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Case-control

Study locations

Germany · 1 center
  • University Hospital Tübingen — Tübingen

Identifiers

NCT: NCT04046796 · DISCO-TWIN

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗