{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:20:29Z","timestamp":1760059229876,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T00:00:00Z","timestamp":1748649600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000897","name":"Riley Children\u2019s Foundation","doi-asserted-by":"publisher","award":["HUANG20F5"],"award-info":[{"award-number":["HUANG20F5"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cystic 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&gt;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\u2013liquid 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.<\/jats:p>","DOI":"10.3390\/ijms26115306","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T11:40:32Z","timestamp":1748864432000},"page":"5306","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Elexacaftor\/Tezacaftor\/Ivacaftor Supports Treatment for CF with \u0394I1023-V1024-CFTR"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2151-9499","authenticated-orcid":false,"given":"Yunjie","family":"Huang","sequence":"first","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"},{"name":"Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6046-6759","authenticated-orcid":false,"given":"Jorge Moises","family":"Gonzales Cordova","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Penrod","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"},{"name":"Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa Lynn","family":"Bendy","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2809-5799","authenticated-orcid":false,"given":"Pi Chun","family":"Cheng","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6265-6249","authenticated-orcid":false,"given":"Don B.","family":"Sanders","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael Denning","family":"Davis","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"},{"name":"Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Gaston","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"},{"name":"Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4495-4693","authenticated-orcid":false,"given":"James Francis","family":"Chmiel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jcf.2018.05.004","article-title":"CFTR modulator theratyping: Current status, gaps and future directions","volume":"18","author":"Clancy","year":"2019","journal-title":"J. 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