P118 Rare CFTR variants: knowing them to target them more successfully

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Chiron, R. | Coudrat, A. | Ronayette, A. | Sonnet, L. | Bareil, C. | Sasorith, S. | Abely, M. | Audousset, C. | Auffret, M. | Blondé, A. | Bluteau, C. | Bui, S. | Choubrac, C. | de Carli, P. | Delattre, C. | Dufeu, N. | Gueganton, L. | Hamidfar, R. | Ka, A. | Leroy, S. | Martin, C. | Mazur, S. | Orsero, S. | Pengam, J. | Quentin, J. | Ramel, S. | Raynal, C. | Reix, P. | Roussey-Bihouée, T. | Savadogo, M. | Tembely, D. | Thouvenin, G. | Wizla, N.

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International audience. To pave the way to future clinical trials, the French National ClinicalResearch Network (PNRC) has initiated a project which aims to characterizepatients with rare CFTR variants with no CFTR modulators and evaluatetheir needs in terms of clinical research by using the French CF registry(RFM). The first step is to have an exhaustive, high-quality genetic databaseat your disposal.CFTR France database records patients with rare CFTR variants anddescribes their different phenotypes. A verification process is set upbetween CFTR France and RFM, leading to some corrections to confirm thenature of the CFTR variant.Objective: To identify and correct potential genotype errors in the RFM.Methods: We checked all data by cross-referencing patient genotype datain both databases. For each inconsistency, we carried out a case-by-caseanalysis and contacted the patient’s CF clinician and clinical researchcoordinator to reach an agreement regarding genotype and correct theRFM.Results: To date, 78 patients with at least 1 variant inconsistency have beenidentified among the 7070 patients recorded in the RFM before 2017. Some inconsistencies were aberrant, with genotypes that did not match, whileothers were errors due to data entry. The evaluation of errors between 2017and 2023 is ongoing and results will be presented.Conclusions: Thanks to this quality control, we identified and correctedaround 1% of errors in the RFM regarding patients’ genotype. The entirecohort still needs to be checked. After this careful correction work andwaiting results of the total cohort, it was decided to lock this crucial data inthe RFM. It was important to first perform this quality control assessmenton genetic data, in order to reach our main objective of characterizingpatients with rare variants. The second stage of our project is to describetheir health evolution, identify their requirements in terms of therapeuticoptions and assess if future developments match their needs.

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