Trials / Unknown
UnknownNCT03491280
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 5,500 (estimated)
- Sponsor
- University Hospital Tuebingen · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
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.
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| GENETIC | NGS Diagnostic | Blood take for genetic diagnostic. |
Timeline
- Start date
- 2018-05-01
- Primary completion
- 2023-04-01
- Completion
- 2025-04-01
- First posted
- 2018-04-09
- Last updated
- 2022-05-23
Locations
1 site across 1 country: Germany
Source: ClinicalTrials.gov record NCT03491280. Inclusion in this directory is not an endorsement.