Cystic Fibrosis Clinical Trial
— RIDOfficial title:
Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)
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.
Status | Recruiting |
Enrollment | 50 |
Est. completion date | February 2025 |
Est. primary completion date | February 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
France | Hopital Pellegrin | Bordeaux |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Bordeaux |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | Inclusion visit | |
Secondary | 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 | Inclusion visit | |
Secondary | 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. | Inclusion visit | |
Secondary | 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 | Inclusion visit | |
Secondary | Praticability : Training time of Biologists for interpretation | Evaluation of training time needed to interpret the data | Inclusion visit | |
Secondary | Global cost | Evaluation of cost of global analyse and each test | Inclusion visit |
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