Evaluating genetic testing methods for rare diseases and familial tumor syndromes
Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes
This study looks at how well new genetic testing methods can help people with rare diseases and their families understand their risk for these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 12000 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Trial ID | NCT04731857 on ClinicalTrials.gov |
What this trial studies
This observational study analyzes retrospective data from patients with genetic diseases and their family members who underwent genetic testing between October 2016 and December 2020. The focus is on utilizing next-generation sequencing (NGS) and polygenic risk scores (PRSs) to enhance the understanding of genetic predispositions. By examining approximately 12,000 individual records, the study aims to develop diagnostic algorithms and improve future genetic testing strategies. The findings will contribute to a more robust framework for diagnosing rare diseases and familial tumor syndromes.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with genetic diseases and their family members who have undergone genetic analysis during the specified timeframe.
Not a fit: Patients without a genetic disease or those who did not undergo genetic testing during the study period may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic accuracy and personalized treatment options for patients with rare genetic diseases.
How similar studies have performed: Other studies utilizing next-generation sequencing and polygenic risk scores have shown promise in improving genetic diagnostics, indicating a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with genetic disease or * Family members * Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen Exclusion Criteria: \- None
Where this trial is running
Tübingen
- University Hospital Tübingen — Tübingen, Germany (Recruiting)
Study contacts
- Principal investigator: Tobias Haack, Dr. — University Hospital Tübingen
- Study coordinator: Tobias Haack, Dr.
- Email: tobias.haack@med.uni-tuebingen.de
- Phone: +49 7071 298
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.