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

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Rare Diseases, Genetic Predisposition

Intervention / Treatment
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* Genetic: NGS Diagnostic


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Unclear diagnosis Suspected genetic cause of the disease Exclusion Criteria: Missing informed consent of the patient/ legal guardian
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group 1<br>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. | Genetic: NGS Diagnostic<br>* Blood take for genetic diagnostic.<br>* Other names: Omics Technology;|
| Group 2<br>Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed. | Genetic: NGS Diagnostic<br>* Blood take for genetic diagnostic.<br>* Other names: Omics Technology;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Molecular genetic | Verification of the genetic causes of unclear genetic diseases | Day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of diagnoses | Improve number of diagnoses of unclear syndromes | Day 1 | 
| Characterization of gene defects | Further characterization of the identified gene defects | Day 1 | 
| Number of patients receiving appropriate therapy after successful diagnosis | Number of patients receiving appropriate therapy after successful diagnosis | Day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Rare Diseases, Genetic Predisposition, Omics Technology, Next Generation Sequencing (NGS)