Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases

Recruiting

• Conditions: Rare Diseases; Genetic Predisposition
• Interventions: Genetic: NGS Diagnostic

• Registration Number: NCT03491280
• Lead Sponsor: University Hospital Tuebingen

Brief Summary

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.

Detailed 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.

Study Timeline

• Study First Submitted: 2017-12-20
• Study First Submitted QC: 2018-04-06
• Study First Posted: 2018-04-09
• Study Start: 2018-05-01
• Status Verified: 2022-05
• Last Update Submitted: 2022-05-19
• Last Update Posted: 2022-05-23
• Primary Completion: 2023-04
• Study Completion: 2025-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 5500

Inclusion Criteria

• Unclear diagnosis
• Suspected genetic cause of the disease

Exclusion Criteria

• Missing informed consent of the patient/ legal guardian

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Group 2	NGS Diagnostic	Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.
Group 1	NGS Diagnostic	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.

Primary Outcome Measures

Name	Time	Method
Molecular genetic	Day 1	Verification of the genetic causes of unclear genetic diseases

Secondary Outcome Measures

Name	Time	Method
Number of diagnoses	Day 1	Improve number of diagnoses of unclear syndromes
Number of patients receiving appropriate therapy after successful diagnosis	Day 1	Number of patients receiving appropriate therapy after successful diagnosis
Characterization of gene defects	Day 1	Further characterization of the identified gene defects

Trial Locations

Locations (1)

University Hospital; 🇩🇪 Tübingen, Germany