Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program

NCT ID: NCT04760522

Last Updated: 2023-11-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

12000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-06-01

Study Completion Date

2027-07-31

Brief Summary

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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.

Detailed Description

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Conditions

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Rare Diseases Genetic Predisposition to Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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WGS Diagnostic

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).

Group Type EXPERIMENTAL

WGS Diagnostic: Blood take for genetic diagnostic

Intervention Type GENETIC

Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).

Interventions

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WGS Diagnostic: Blood take for genetic diagnostic

Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital Tuebingen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Olaf Rieß, Prof. Dr.

Role: STUDY_DIRECTOR

University Hospital Tübingen

Locations

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University Hospital Tübingen

Tübingen, , Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Olaf Rieß, Prof. Dr.

Role: CONTACT

+49 7071 29 ext. 72323

Andreas Dufke, PD Dr.

Role: CONTACT

+49 7071 29 ext. 72190

Facility Contacts

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Olaf Rieß, Prof. Dr.

Role: primary

+49 7071 29 ext. 72323

Andreas Dufke, PD Dr.

Role: backup

+49 7071 29

Other Identifiers

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GE-MED APPROACH

Identifier Type: -

Identifier Source: org_study_id