Research to identify genetic causes of rare diseases
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
This study is trying to find the genetic causes of rare diseases in patients by looking closely at their DNA and their family members' DNA to help improve diagnosis.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire Dijon Academic / other |
| Locations | 1 site (Dijon) |
| Trial ID | NCT04024774 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with rare diseases that have unclear molecular causes. It employs advanced algorithms and statistical models to re-analyze existing genetic data, complemented by omics technologies and functional studies using patient-derived cell lines. The study also includes a trio analysis involving healthy family members to enhance the identification of de novo variants. The goal is to improve the diagnosis of hereditary diseases that have previously remained unsolved.
Who should consider this trial
Good fit: Ideal candidates include individuals with rare diseases of unclear genetic origin and their healthy parents for trio analysis.
Not a fit: Patients without a suspected genetic cause or those not affiliated with a national health insurance scheme may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses for patients with rare genetic diseases.
How similar studies have performed: Other studies utilizing advanced genetic analysis techniques have shown promise in identifying previously undiagnosed rare diseases, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Persons or legal guardian who have given their written informed consent * Unclear molecular cause of the disease corresponding to the list of diseases selected by the Solve-RD data interpretation force (principal investigator part of the team) * Suspected genetic cause of the disease with negative exome reanalysis * Healthy parents available for trio analysis Exclusion Criteria: * Person not affiliated to a national health insurance scheme
Where this trial is running
Dijon
- CHU de Dijon — Dijon, France (Recruiting)
Study contacts
- Study coordinator: Laurence OLIVIER-FAIVRE
- Email: laurence.faivre@chu-dijon.fr
- Phone: 03.80.29.53.13
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.