Genome-based management for patients with unclear genetic diseases
Official title: Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
Run by University Hospital Tuebingen · NCT04760522 · Data updated 2026-11-12
This study is testing if using whole genome sequencing as a first step can help find the causes of unclear genetic diseases in about 12,000 patients.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 12000 (estimated) |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Status | Recruiting |
| Started | June 1, 2021 |
| Main results expected | July 2026 |
| Study ends | July 2027 |
| Registry record updated | November 29, 2023 |
| Trial ID | NCT04760522 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with unclear molecular causes of their diseases or those suspected to have a genetic predisposition.
✕Probably not a fit
Patients who have previously undergone Whole Exome Sequencing (WES) or panel analysis may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project aims to enroll approximately 12,000 patients who have unclear molecular causes of their diseases or suspected genetic causes without prior detailed molecular analysis. The study introduces a novel approach by integrating genomic health concepts into clinical care, utilizing Whole Genome Sequencing (WGS) as a first-line diagnostic tool for rare diseases and familial cancer syndromes. The methodology involves a personalized medicine framework that emphasizes predictive and preventive strategies within a well-established healthcare system, supported by decentralized Disease Analysing Task Forces (DATF).
Why it matters
Potential benefit: If successful, this approach could lead to more accurate diagnoses and tailored treatments for patients with rare genetic diseases.
How similar studies have gone: Other studies have shown promise in using genomic sequencing for diagnosing rare diseases, indicating a potential for success in this novel approach.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
University Hospital Tübingen
Tübingen, Germany Recruiting
Study contacts
- Study coordinator: Olaf Rieß, Prof. Dr.
- Email: olaf.riess@med.uni-tuebingen.de
- Phone: +49 7071 29
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.