Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Rare Diseases
- Sponsor
- University Hospital Tuebingen
- Enrollment
- 5500
- Locations
- 1
- Primary Endpoint
- Molecular genetic
- Status
- Recruiting
- Last Updated
- 3 years ago
Overview
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.
Investigators
Prof. Dr. Ludger Schöls
Principal investigator
University Hospital Tuebingen
Eligibility Criteria
Inclusion Criteria
- •Unclear diagnosis
- •Suspected genetic cause of the disease
Exclusion Criteria
- •Missing informed consent of the patient/ legal guardian
Outcomes
Primary Outcomes
Molecular genetic
Time Frame: Day 1
Verification of the genetic causes of unclear genetic diseases
Secondary Outcomes
- Characterization of gene defects(Day 1)
- Number of diagnoses(Day 1)
- Number of patients receiving appropriate therapy after successful diagnosis(Day 1)