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

Overview

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 Title of Study: “Diagnostic Research in Patients With Rare Diseases – Solving the Unsolved Rare Diseases”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Other
  • Study Primary Completion Date: April 2023

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.

Interventions

  • Genetic: NGS Diagnostic
    • Blood take for genetic diagnostic.

Arms, Groups and Cohorts

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

Clinical Trial Outcome Measures

Primary Measures

  • Molecular genetic
    • Time Frame: Day 1
    • Verification of the genetic causes of unclear genetic diseases

Secondary Measures

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

Participating in This Clinical Trial

Inclusion Criteria

  • Unclear diagnosis – Suspected genetic cause of the disease Exclusion Criteria:

  • Missing informed consent of the patient/ legal guardian

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital Tuebingen
  • Provider of Information About this Clinical Study
    • Principal Investigator: Prof. Dr. Ludger Schöls, Principal investigator – University Hospital Tuebingen
  • Overall Official(s)
    • Holm Graessner, Dr., Study Chair, Managing Director
  • Overall Contact(s)
    • Holm Graessner, Dr., +49 (0)7071/29-85944, holm.graessner@med.uni-tuebingen.de

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