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

University Hospital Tuebingen

Status: Enrolling

Conditions: Genetic Predisposition to Disease; Rare Diseases

Treatments: Genetic: NGS Diagnostic

Study type: Observational

Funder types: Other

Identifiers

NCT04046796

DISCO-TWIN

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

50 participants in 2 patient groups

Healthy twin

Treatment:

Genetic: NGS Diagnostic

Effected Twin

Description:

Twin with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location.

Treatment:

Genetic: NGS Diagnostic