Functional Tests to Resolve Unsolved Rare Diseases. Rares. (RID)
Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis
About this trial
This is an interventional diagnostic trial for Intellectual Disability focused on measuring Variant of unknown significance, Functional genetics, Translational research, RNAseq, Gene expression regulation
Eligibility 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
Sites / Locations
- Hopital PellegrinRecruiting
Arms of the Study
Arm 1
Other
Ex-vivo and In-vitro approach
Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis. In-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay