Genetic Causes of Discrepant Clinic in Monogenic Twins

NCT04046796 | Recruiting

• 1 other identifier: DISCO-TWIN
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Diseases; Genetic Predisposition to Disease

Keywords

Rare Diseases; Genetic Predisposition; Omics Technology; Next Generation Sequencing (NGS)

Outcome Measures

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

  Day 1

Secondary Outcomes (3)

• Number of putative disease causes

  Day 1

• Number of diagnosis

  Day 1

• Number of molecular causes of diagnostically unclear rare diseases

  Day 1

Study Arms (2)

Healthy twin

Genetic: NGS Diagnostic

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

Interventions

NGS Diagnostic GENETIC

Blood take for genetic diagnostic.

Also known as: Omics Technology

Effected Twin; Healthy twin

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Twin pair monozygotic clinically (phenotypic) discordant twins

You may qualify if:

• Twin pair monozygotic clinically (phenotypic) discordant twins
• Unclear diagnosis
• Suspected (mono-)genetic cause of the disease in one twin

You may not qualify if:

• Missing informed consent of both twin/ legal representative
• No distinct phenotype

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University Hospital Tübingen

Tübingen, 72076, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sampling for NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures).

MeSH Terms

Conditions

Rare Diseases; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Disease Susceptibility

Study Officials

• Jeannette Hübener-Schmid, Dr.

  University Hospital Tübingen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jeannette Hübener-Schmid, Dr.

CONTACT

+49 7071 29; jeannette.huebener@med.uni-tuebingen.de

Andreas Dufke, PD Dr.

CONTACT

+49 7071 29; andreas.dufke@med.uni-tuebingen.de

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 2, 2019
• First Posted: August 6, 2019
• Study Start: December 1, 2019
• Primary Completion: December 1, 2025
• Study Completion (Estimated): December 1, 2027
• Last Updated: March 30, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)