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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

Tracking Information
First Submitted Date December 20, 2017
First Posted Date April 9, 2018
Last Update Posted Date May 2, 2019
Actual Study Start Date May 1, 2018
Estimated Primary Completion Date April 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 6, 2018)
Molecular genetic [ Time Frame: Day 1 ]
Verification of the genetic causes of unclear genetic diseases
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03491280 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: April 6, 2018)
  • Number of diagnoses [ Time Frame: Day 1 ]
    Improve number of diagnoses of unclear syndromes
  • Characterization of gene defects [ Time Frame: Day 1 ]
    Further characterization of the identified gene defects
  • Number of patients receiving appropriate therapy after successful diagnosis [ Time Frame: Day 1 ]
    Number of patients receiving appropriate therapy after successful diagnosis
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
Official Title Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
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.
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
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample
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.
Condition
  • Rare Diseases
  • Genetic Predisposition
Intervention Genetic: NGS Diagnostic
Blood take for genetic diagnostic.
Other Name: Omics Technology
Study Groups/Cohorts
  • 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.
    Intervention: Genetic: NGS Diagnostic
  • Group 2
    Subjects with unclear rare diseases, genetic diagnostic (NGS diagnostic) is already performed.
    Intervention: Genetic: NGS Diagnostic
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 6, 2018)
5500
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 2025
Estimated Primary Completion Date April 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Unclear diagnosis
  • Suspected genetic cause of the disease

Exclusion Criteria:

  • Missing informed consent of the patient/ legal guardian
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
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
Listed Location Countries Germany
Removed Location Countries  
 
Administrative Information
NCT Number NCT03491280
Other Study ID Numbers DiRiP-RD
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Prof. Dr. Ludger Schöls, University Hospital Tuebingen
Study Sponsor University Hospital Tuebingen
Collaborators Not Provided
Investigators
Study Chair: Holm Graessner, Dr. Managing Director
PRS Account University Hospital Tuebingen
Verification Date April 2019