Genome-based management for patients with unclear genetic diseases
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 12000 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Trial ID | NCT04760522 on ClinicalTrials.gov |
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).
Who should consider this trial
Good fit: Ideal candidates are individuals with unclear molecular causes of their diseases or those suspected to have a genetic predisposition.
Not a fit: Patients who have previously undergone Whole Exome Sequencing (WES) or panel analysis may not benefit from this study.
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 performed: Other studies have shown promise in using genomic sequencing for diagnosing rare diseases, indicating a potential for success in this novel approach.
Eligibility criteria
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 this trial is running
Tübingen
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.