Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
DiRiP-RD
1 other identifier
observational
5,500
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started May 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
December 20, 2017
CompletedFirst Posted
Study publicly available on registry
April 9, 2018
CompletedStudy Start
First participant enrolled
May 1, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2023
CompletedStudy Completion
Last participant's last visit for all outcomes
April 1, 2025
CompletedMay 23, 2022
May 1, 2022
4.9 years
December 20, 2017
May 19, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Molecular genetic
Verification of the genetic causes of unclear genetic diseases
Day 1
Secondary Outcomes (3)
Number of diagnoses
Day 1
Characterization of gene defects
Day 1
Number of patients receiving appropriate therapy after successful diagnosis
Day 1
Study Arms (2)
Group 1
Subjects with unclear rare diseases, clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating location, genetic diagnostic (NGS diagnostic) must be performed.
Group 2
Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.
Interventions
Blood take for genetic diagnostic.
Eligibility Criteria
This study recruit both underage and adult persons (male and female) with unclear genetic syndromes who present themselves for consultation at the UKT and who are suspected of having a genetic cause of the disease.
You may qualify if:
- Unclear diagnosis
- Suspected genetic cause of the disease
You may not qualify if:
- Missing informed consent of the patient/ legal guardian
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University Hospital
Tübingen, 72076, Germany
Biospecimen
Blood sample
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY CHAIR
Holm Graessner, Dr.
Managing Director
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal investigator
Study Record Dates
First Submitted
December 20, 2017
First Posted
April 9, 2018
Study Start
May 1, 2018
Primary Completion
April 1, 2023
Study Completion
April 1, 2025
Last Updated
May 23, 2022
Record last verified: 2022-05