Genetic Predisposition Clinical Trial
— DiRiP-RDOfficial title:
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
NCT number | NCT03491280 |
Other study ID # | DiRiP-RD |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | May 1, 2018 |
Est. completion date | April 2025 |
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.
Status | Recruiting |
Enrollment | 5500 |
Est. completion date | April 2025 |
Est. primary completion date | April 2023 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Unclear diagnosis - Suspected genetic cause of the disease Exclusion Criteria: - Missing informed consent of the patient/ legal guardian |
Country | Name | City | State |
---|---|---|---|
Germany | University Hospital | Tübingen |
Lead Sponsor | Collaborator |
---|---|
University Hospital Tuebingen |
Germany,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Molecular genetic | Verification of the genetic causes of unclear genetic diseases | Day 1 | |
Secondary | Number of diagnoses | Improve number of diagnoses of unclear syndromes | Day 1 | |
Secondary | Characterization of gene defects | Further characterization of the identified gene defects | Day 1 | |
Secondary | Number of patients receiving appropriate therapy after successful diagnosis | Number of patients receiving appropriate therapy after successful diagnosis | Day 1 |
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