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

NCT04760522 | Recruiting

• 1 other identifier: GE-MED APPROACH
• Study Type: interventional
• Target: 12,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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)

Outcome Measures

Primary Outcomes (1)

• Number of WGS analysis

  WGS analysis as a first line diagnostic test for all clinical indications

  Day 1

Study Arms (1)

WGS Diagnostic

EXPERIMENTAL

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).

Genetic: WGS Diagnostic: Blood take for genetic diagnostic

Interventions

WGS Diagnostic: Blood take for genetic diagnostic GENETIC

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

WGS Diagnostic

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Unclear molecular cause of the disease
• Suspected genetic cause of the disease

You may not qualify if:

• Missing informed consent of the patient and if applicable the legal representative
• Previously performed WES or panel analysis

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University Hospital Tübingen

Tübingen, 72076, Germany

RECRUITING

MeSH Terms

Conditions

Rare Diseases; Genetic Predisposition to Disease; Genetic Risk Score

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Disease Susceptibility

Study Officials

• Olaf Rieß, Prof. Dr.

  University Hospital Tübingen

  STUDY DIRECTOR

Central Study Contacts

Olaf Rieß, Prof. Dr.

CONTACT

+49 7071 29; olaf.riess@med.uni-tuebingen.de

Andreas Dufke, PD Dr.

CONTACT

+49 7071 29; andreas.dufke@med.uni-tuebingen.de

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 16, 2021
• First Posted: February 18, 2021
• Study Start: June 1, 2021
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2027
• Last Updated: November 29, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ANALYTIC CODE
• Time Frame: Data will become available after analysis and unlimited.
• Access Criteria: Authorized users within the participating organizations.

Locations

DE (1)