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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

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

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

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

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

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

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

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

olaf.riess@med.uni-tuebingen.de

First Name & Middle Initial & Last Name & Degree

Andreas Dufke, PD Dr.

Phone

+49 7071 29

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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