An interventional study of Ex-vivo approach concerning 25 patients and In-vitro approach concerning 25 patients in Intellectual Disability, Rubinstein-Taybi Syndrome and Cystic Fibrosis, sponsored by University Hospital, Bordeaux. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2024-02-21.
Sponsored by University Hospital, Bordeaux · Not applicable, Interventional, and Diagnostic
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis.
The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.
The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actually with implementation of high-throughput sequencing for diagnosis, a high number of genetic variants are found and need to be interpretated. The ACMG classification is used to classify variants with argument of variant frequency, predicted effect on protein and in-silico prediction. Functional evidence is a strong argument to help classify VOUS. The investigators propose the use of RNA-Seq, minigene and luciferase assay for study of VOUS to bring argument to classify them as benign or pathogenic.
387 studies on the registry are indexed under Intellectual Disability; 105 are open to participants now.
This study's planned enrollment of 50 is below the median of 58 across 248 interventional studies indexed under Intellectual Disability.
Browse Intellectual Disability studies →University Hospital, Bordeaux is the lead sponsor of 806 studies on the registry; 197 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Genetic: Ex-vivo approach concerning 25 patients · Genetic: In-vitro approach concerning 25 patients
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
Proportion of VOUS reclassified as pathogenic (class 5) or benign (class 1)
It's the proportion of VOUS that could be definitively reclassified as pathogenic (class 5) or benign (class 1) according to the ACMG classification (Richards et al., 2015 and Appendix 1). Indeed currently only variants considered as pathogenic or probably pathogenic make it possible to confirm a diagnosis and to propose genetic offer genetic counseling to families and perform a prenatal diagnosis. This is an evaluation that will be carried out at the end of the analyses carried out
Time frame: Inclusion visit
Pre-analysis process : Time of sample transport to the laboratory
Time of transport to the laboratory. To calculate this time, the time of collection and the time of receipt by the and the time of reception by the molecular genetics technician will be recorded
Time frame: Inclusion visit
Pre-analysis process : Quality of RNA extraction (RNA Integrity Number, RIN)
RNA quality measurement by RIN (RNA integrity number): very good \>7, good \>/=5, poor \<5. Only RNA with RIN \>5 will be retained.
Time frame: Inclusion visit
Praticability :Characteristics and number of CPU (Central Processing Unit)
Evaluation of bioinformatic ressources by measure of number of CPU needed and turnaround time for processing data
Time frame: Inclusion visit
Praticability : Training time of Biologists for interpretation
Evaluation of training time needed to interpret the data
Time frame: Inclusion visit
Global cost
Evaluation of cost of global analyse and each test
Time frame: Inclusion visit
Plan to share: No
No publications or documents are linked to this record.
Started Jan 2023 (actual). Primary completion is estimated for Feb 2025, 25 months after the start.
Of 155 non-industry interventional studies with no phase under Intellectual Disability, half reached primary completion within 18 months of starting (the median), counting those still running; a quarter within 7 and three quarters within 36. This study's planned 25 months is above that.
Counting every sponsor, half of 158 studies reached it within 19 months; a quarter within 7 and three quarters within 36.
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