Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases (DiRiP-RD)

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases; Genetic Predisposition
• Intervention / Treatment: Genetic: NGS Diagnostic

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.

• Study Type: Observational
• Enrollment (Anticipated): 5500

Contacts and Locations

• Study Contact: Name: Holm Graessner, Dr.; Phone Number: +49 (0)7071/29-85944; Email: holm.graessner@med.uni-tuebingen.de
• Study Contact Backup: Name: Ludger Schöls, Prof. Dr.; Phone Number: +49-(0)7071-2982057; Email: ludger.schoels@uni-tuebingen.de

Study Locations

• Germany
  • Tübingen, Germany, 72076
    • Recruiting
    • University Hospital
    • Contact: Ludger Schoels, Prof. Dr.; Phone Number: 2982057 +49 (0)7071; Email: ludger.schoels@uni-tuebingen.de
    • Contact: Olaf Rieß, Prof. Dr.; Phone Number: 2972323 +49 (0)7071; Email: olaf.riess@med.uni-tuebingen.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• Unclear diagnosis
• Suspected genetic cause of the disease

Exclusion Criteria:

• Missing informed consent of the patient/ legal guardian

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	Genetic: NGS Diagnostic; Blood take for genetic diagnostic.; Other Names: Omics Technology
Group 2; Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.	Genetic: NGS Diagnostic; Blood take for genetic diagnostic.; Other Names: Omics Technology

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Molecular genetic	Verification of the genetic causes of unclear genetic diseases	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of diagnoses	Improve number of diagnoses of unclear syndromes	Day 1
Characterization of gene defects	Further characterization of the identified gene defects	Day 1
Number of patients receiving appropriate therapy after successful diagnosis	Number of patients receiving appropriate therapy after successful diagnosis	Day 1

Collaborators and Investigators

• Sponsor: University Hospital Tuebingen
• Investigators: Study Chair: Holm Graessner, Dr., Managing Director

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2018
• Primary Completion (Anticipated): April 1, 2023
• Study Completion (Anticipated): April 1, 2025

Study Registration Dates

• First Submitted: December 20, 2017
• First Submitted That Met QC Criteria: April 6, 2018
• First Posted (Actual): April 9, 2018

Study Record Updates

• Last Update Posted (Actual): May 23, 2022
• Last Update Submitted That Met QC Criteria: May 19, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Keywords: Rare Diseases; Genetic Predisposition; Next Generation Sequencing (NGS); Omics Technology
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease; Rare Diseases
• Other Study ID Numbers: DiRiP-RD

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No