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

NCT03491280 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 5500

Last updated 2022-05-23

No results posted yet for this 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.

Conditions

Interventions

GENETIC

NGS Diagnostic

Blood take for genetic diagnostic.

Sponsors & Collaborators

  • University Hospital Tuebingen

    lead OTHER

Principal Investigators

  • Holm Graessner, Dr. · Managing Director

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-05-01
Primary Completion
2023-04-30
Completion
2025-04-30

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03491280 on ClinicalTrials.gov