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

Genetic Predisposition Clinical Trial

— DiRiP-RD  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03491280
• Other study ID #: DiRiP-RD
• Status: Recruiting
• Start date: May 1, 2018
• Est. completion date: April 2025

Study information

• Verified date: May 2022
• Source: University Hospital Tuebingen
• Contact: Holm Graessner, Dr.
• Phone: +49 (0)7071/29-85944
• Email: holm.graessner[@]med.uni-tuebingen.de
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• 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

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease
• Rare Diseases

Intervention

Genetic:
• NGS Diagnostic
Blood take for genetic diagnostic.

Locations

Country	Name	City	State
Germany	University Hospital	Tübingen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

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