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

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ClinicalTrials.gov Identifier: NCT03491280
Recruitment Status : Recruiting
First Posted : April 9, 2018
Last Update Posted : May 2, 2019
Sponsor:
Information provided by (Responsible Party):
Prof. Dr. Ludger Schöls, University Hospital Tuebingen

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.

Condition or disease Intervention/treatment
Rare Diseases Genetic Predisposition 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.

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Study Type : Observational
Estimated Enrollment : 5500 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
Actual Study Start Date : May 1, 2018
Estimated Primary Completion Date : April 2023
Estimated Study Completion Date : April 2025

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rare Diseases

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 Name: 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 Name: Omics Technology




Primary Outcome Measures :
  1. Molecular genetic [ Time Frame: Day 1 ]
    Verification of the genetic causes of unclear genetic diseases


Secondary Outcome Measures :
  1. Number of diagnoses [ Time Frame: Day 1 ]
    Improve number of diagnoses of unclear syndromes

  2. Characterization of gene defects [ Time Frame: Day 1 ]
    Further characterization of the identified gene defects

  3. Number of patients receiving appropriate therapy after successful diagnosis [ Time Frame: Day 1 ]
    Number of patients receiving appropriate therapy after successful diagnosis


Biospecimen Retention:   Samples With DNA
Blood sample


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

Inclusion Criteria:

  • Unclear diagnosis
  • Suspected genetic cause of the disease

Exclusion Criteria:

  • Missing informed consent of the patient/ legal guardian

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03491280


Contacts
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Contact: Holm Graessner, Dr. +49 (0)7071/29-85944 holm.graessner@med.uni-tuebingen.de
Contact: Ludger Schöls, Prof. Dr. +49-(0)7071-2982057 ludger.schoels@uni-tuebingen.de

Locations
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Germany
University Hospital Recruiting
Tübingen, Germany, 72076
Contact: Ludger Schoels, Prof. Dr.    +49 (0)7071 ext 2982057    ludger.schoels@uni-tuebingen.de   
Contact: Olaf Rieß, Prof. Dr.    +49 (0)7071 ext 2972323    olaf.riess@med.uni-tuebingen.de   
Sponsors and Collaborators
University Hospital Tuebingen
Investigators
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Study Chair: Holm Graessner, Dr. Managing Director

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Responsible Party: Prof. Dr. Ludger Schöls, Principal investigator, University Hospital Tuebingen
ClinicalTrials.gov Identifier: NCT03491280     History of Changes
Other Study ID Numbers: DiRiP-RD
First Posted: April 9, 2018    Key Record Dates
Last Update Posted: May 2, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Prof. Dr. Ludger Schöls, University Hospital Tuebingen:
Rare Diseases
Genetic Predisposition
Omics Technology
Next Generation Sequencing (NGS)

Additional relevant MeSH terms:
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Rare Diseases
Disease Susceptibility
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes