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

Last updated: May 19, 2022
Sponsor: University Hospital Tuebingen
Overall Status: Active - Recruiting

Phase

N/A

Condition

Neuronal Ceroid Lipofuscinoses (Ncl)

Holoprosencephaly

Treatment

N/A

Clinical Study ID

NCT03491280
DiRiP-RD
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Unclear diagnosis
  • Suspected genetic cause of the disease

Exclusion

Exclusion Criteria:

  • Missing informed consent of the patient/ legal guardian

Study Design

Total Participants: 5500
Study Start date:
May 01, 2018
Estimated Completion Date:
April 30, 2025

Study 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.

Connect with a study center

  • University Hospital

    Tübingen, 72076
    Germany

    Active - Recruiting

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