Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program (GE-MED)
Primary Purpose
Rare Diseases, Genetic Predisposition to Disease
Status
Recruiting
Phase
Not Applicable
Locations
Germany
Study Type
Interventional
Intervention
WGS Diagnostic: Blood take for genetic diagnostic
Sponsored by
About this trial
This is an interventional basic science trial for Rare Diseases focused on measuring Rare Diseases, Genetic Predisposition, Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Familial cancer syndromes, Polygenic Risk Scores (PRS)
Eligibility Criteria
Inclusion Criteria:
- Unclear molecular cause of the disease
- Suspected genetic cause of the disease
Exclusion Criteria:
- Missing informed consent of the patient and if applicable the legal representative
- Previously performed WES or panel analysis
Sites / Locations
- University Hospital TübingenRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
WGS Diagnostic
Arm Description
Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease. Study related procedures: Blood sampling, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics).
Outcomes
Primary Outcome Measures
Number of WGS analysis
WGS analysis as a first line diagnostic test for all clinical indications
Secondary Outcome Measures
Full Information
NCT ID
NCT04760522
First Posted
February 16, 2021
Last Updated
May 17, 2022
Sponsor
University Hospital Tuebingen
1. Study Identification
Unique Protocol Identification Number
NCT04760522
Brief Title
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
Acronym
GE-MED
Official Title
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
Study Type
Interventional
2. Study Status
Record Verification Date
May 2022
Overall Recruitment Status
Recruiting
Study Start Date
June 1, 2021 (Actual)
Primary Completion Date
July 2026 (Anticipated)
Study Completion Date
July 2027 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital Tuebingen
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief Summary
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented.
The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Rare Diseases, Genetic Predisposition to Disease
Keywords
Rare Diseases, Genetic Predisposition, Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Familial cancer syndromes, Polygenic Risk Scores (PRS)
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
12000 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
WGS Diagnostic
Arm Type
Experimental
Arm Description
Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease.
Study related procedures: Blood sampling, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics).
Intervention Type
Genetic
Intervention Name(s)
WGS Diagnostic: Blood take for genetic diagnostic
Intervention Description
Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).
Primary Outcome Measure Information:
Title
Number of WGS analysis
Description
WGS analysis as a first line diagnostic test for all clinical indications
Time Frame
Day 1
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Unclear molecular cause of the disease
Suspected genetic cause of the disease
Exclusion Criteria:
Missing informed consent of the patient and if applicable the legal representative
Previously performed WES or panel analysis
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Olaf Rieß, Prof. Dr.
Phone
+49 7071 29
Ext
72323
Email
olaf.riess@med.uni-tuebingen.de
First Name & Middle Initial & Last Name or Official Title & Degree
Andreas Dufke, PD Dr.
Phone
+49 7071 29
Ext
72190
Email
andreas.dufke@med.uni-tuebingen.de
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Olaf Rieß, Prof. Dr.
Organizational Affiliation
University Hospital Tübingen
Official's Role
Study Director
Facility Information:
Facility Name
University Hospital Tübingen
City
Tübingen
ZIP/Postal Code
72076
Country
Germany
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Olaf Rieß, Prof. Dr.
Phone
+49 7071 29
Ext
72323
Email
olaf.riess@med.uni-tuebingen.de
First Name & Middle Initial & Last Name & Degree
Andreas Dufke, PD Dr.
Phone
+49 7071 29
Email
andreas.dufke@med.uni-tuebingen.de
12. IPD Sharing Statement
Plan to Share IPD
Yes
IPD Sharing Plan Description
The GE-MED APPROACH study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts
IPD Sharing Time Frame
Data will become available after analysis and unlimited.
IPD Sharing Access Criteria
Authorized users within the participating organizations.
Learn more about this trial
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
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