Identifying genetic causes of rare diseases with unclear diagnoses
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
This study is trying to find the genetic causes of rare diseases in patients who haven't been diagnosed yet, by using advanced technology and looking at their family's genetic information.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 2 sites (Tübingen and 1 other locations) |
| Trial ID | NCT04315727 on ClinicalTrials.gov |
What this trial studies
The GENOME+ project aims to enroll approximately 100 patients with rare diseases that have not been diagnosed despite previous genetic testing, specifically Whole Exome Sequencing (WES). The study will utilize advanced omics technologies and may involve re-analysis of existing datasets to identify the molecular causes of these unclear conditions. Healthy parents of the affected patients will also participate in trio analyses to enhance diagnostic accuracy. The study seeks to improve the number of diagnoses and facilitate appropriate therapies for patients with rare diseases.
Who should consider this trial
Good fit: Ideal candidates include patients with unclear diagnoses and suspected genetic causes who have previously undergone detailed molecular analysis without results.
Not a fit: Patients who have already received a definitive diagnosis or those without a suspected genetic cause may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and targeted therapies for patients with rare genetic diseases.
How similar studies have performed: Other studies utilizing whole genome sequencing for undiagnosed rare diseases have shown promise, indicating that this approach is both relevant and potentially effective.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Unclear diagnosis * Suspected genetic cause of the disease * Previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism * Healthy parents of those affected for trio analysis (exception of one parent is not available for the study) Exclusion Criteria: * Missing informed consent of the patient and her/his parents
Where this trial is running
Tübingen and 1 other locations
- University Hospital Tübingen — Tübingen, Germany (Not_yet_recruiting)
- 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.