Elexacaftor/Tezacaftor/Ivacaftor Supports Treatment for CF with ΔI1023-V1024-CFTR

dc.contributor.authorHuang, Yunjie
dc.contributor.authorGonzales Cordova, Jorge Moises
dc.contributor.authorPenrod, Sarah
dc.contributor.authorBendy, Lisa Lynn
dc.contributor.authorCheng, Pi Chun
dc.contributor.authorSanders, Don B.
dc.contributor.authorDenning Davis, Michael
dc.contributor.authorGaston, Benjamin
dc.contributor.authorChmiel, James Francis
dc.contributor.departmentPediatrics, School of Medicine
dc.date.accessioned2025-07-14T15:25:33Z
dc.date.available2025-07-14T15:25:33Z
dc.date.issued2025-05-31
dc.description.abstractCystic Fibrosis (CF) is a common genetic disease in the United States, resulting from mutations in the Cystic Fibrosis transmembrane conductance regulator (cftr) gene. CFTR modulators, particularly Elexacaftor/Tezacaftor/Ivacaftor (ETI), have significantly improved clinical outcomes for patients with CF. However, many CFTR mutations are not eligible for CFTR modulator therapy due to their rarity. In this study, we report that a patient carrying rare complex CFTR mutations, c.1680-877G>T and c.3067_3072delATAGTG, showed positive clinical outcomes after ETI treatment. We demonstrate that ETI was able to increase the expression of CFTR harboring c.3067_3072delATAGTG in a heterologous system. Importantly, patient-derived nasal epithelial cells in an air-liquid interface (ALI) culture showed improved CFTR function following ETI treatment. These findings supported the initiation of ETI with the patient. Retrospective studies have suggested that the patient has shown small but steady improvement over the past two years in several clinical metrics, including lung function, body mass index (BMI), and sweat chloride levels. Our studies suggest that ETI could be beneficial for patients carrying c.3067_3072delATAGTG.
dc.eprint.versionFinal published version
dc.identifier.citationHuang Y, Gonzales Cordova JM, Penrod S, et al. Elexacaftor/Tezacaftor/Ivacaftor Supports Treatment for CF with ΔI1023-V1024-CFTR. Int J Mol Sci. 2025;26(11):5306. Published 2025 May 31. doi:10.3390/ijms26115306
dc.identifier.urihttps://hdl.handle.net/1805/49431
dc.language.isoen_US
dc.publisherMDPI
dc.relation.isversionof10.3390/ijms26115306
dc.relation.journalInternational Journal of Molecular Sciences
dc.rightsAttribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourcePMC
dc.subjectCystic Fibrosis transmembrane conductance regulator (CFTR)
dc.subjectCFTR modulators
dc.subjectCystic Fibrosis (CF)
dc.subjectNasal epithelial cells
dc.subjecttTheratyping
dc.titleElexacaftor/Tezacaftor/Ivacaftor Supports Treatment for CF with ΔI1023-V1024-CFTR
dc.typeArticle
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