Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases (DiRiP-RD)

University Hospital Tuebingen

Status: Enrolling

Conditions: Genetic Predisposition; Rare Diseases

Treatments: Genetic: NGS Diagnostic

Study type: Observational

Funder types: Other

Identifiers

NCT03491280

DiRiP-RD

Details and patient eligibility

About

The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed.

The DiRiP-study fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases, and in particular the ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS.

Full description

In the DiRiP-RD study (monocentric, prospective, open-label diagnostic study), patients with genetically unexplained diseases will be analyzed or re-analyzed from existing datasets for further omics analysis. These are evaluated with regard to the following questions:

Primary:

• Verification of the genetic causes of unclear genetic diseases

Secondary:

• Improve number of diagnoses of unclear syndromes
• Further characterization of the identified gene defects
• Number of patients receiving appropriate therapy after successful diagnosis. In addition, patient phenotype and genotype data can be collected using a software tool for collecting and analyzing phenotypic information of patients with genetic disorders ( PhenoTips®) software to facilitate data exchange within the UKT, with external collaborators and data transfer to the Solve-RD project.

Enrollment: 5,500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Unclear diagnosis
• Suspected genetic cause of the disease

Exclusion criteria

• Missing informed consent of the patient/ legal guardian

Trial design

5,500 participants in 2 patient groups

Group 1

Description:

Subjects with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location, genetic diagnostic (NGS diagnostic) must be performed.

Treatment:

Genetic: NGS Diagnostic

Group 2

Description:

Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.

Treatment:

Genetic: NGS Diagnostic