Functional tests to diagnose unsolved rare diseases
Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)
NA · University Hospital, Bordeaux · NCT05696912
This study is testing new ways to better diagnose rare genetic diseases by looking closely at genetic changes in 50 patients to see if they are harmful or harmless.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | University Hospital, Bordeaux (other) |
| Locations | 1 site (Bordeaux) |
| Trial ID | NCT05696912 on ClinicalTrials.gov |
What this trial studies
This study aims to improve the diagnosis of rare genetic diseases by utilizing functional analysis to classify variants of unknown significance (VOUS) as either pathogenic or benign. The research involves high-throughput sequencing to identify genetic variants and employs techniques such as RNA-Seq, minigene, and luciferase assays to provide functional evidence for classification. The study will include both ex-vivo and in-vitro approaches with a total of 50 patients affected by various rare diseases. The ultimate goal is to enhance diagnostic yield and provide clearer insights into the genetic basis of these conditions.
Who should consider this trial
Good fit: Ideal candidates include minors and adults with rare diseases such as albinism, congenital heart defects, cystic fibrosis, or neurodevelopmental disorders who have VOUS.
Not a fit: Patients who do not have variants of unknown significance or those with conditions not included in the study may not benefit from this research.
Why it matters
Potential benefit: If successful, this study could significantly improve the diagnostic accuracy for patients with rare genetic diseases, leading to better-targeted treatments.
How similar studies have performed: Other studies have shown promise in using functional analysis to classify genetic variants, indicating that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Minor and adult patient. * Registered for the social security system. * Informed consent signed by patient or parent of a minor patient. * Patient affected by one of the rare diseases studied (albinism, congenital heart defect, cystic fibrosis, neurodevelopmental disease) * Patient bearing variants of unknown significance (VOUS) Exclusion Criteria: * Refusal to participate in research protocol. * Patient under administrative supervision * Pregnant or nursing women
Where this trial is running
Bordeaux
- Hopital Pellegrin — Bordeaux, France (RECRUITING)
Study contacts
- Principal investigator: Vincent MICHAUD — University Hospital, Bordeaux
- Study coordinator: Vincent MICHAUD
- Email: vincent.michaud@chu-bordeaux.fr
- Phone: +335 57 82 01 93
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.
Conditions: Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect, Periventricular Nodular Heterotopia, Neurodegeneration With Brain Iron Accumulation, Albinism, Variant of unknown significance