{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:26:55Z","timestamp":1793424415590,"version":"4.5.0"},"reference-count":50,"publisher":"European Respiratory Society (ERS)","issue":"4","license":[{"start":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T00:00:00Z","timestamp":1694390400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.ersjournals.com\/user-licence"}],"funder":[{"DOI":"10.13039\/501100006342","name":"Association Vaincre la Mucoviscidose","doi-asserted-by":"publisher","award":["RC20210902984 and RC20220503011"],"award-info":[{"award-number":["RC20210902984 and RC20220503011"]}],"id":[{"id":"10.13039\/501100006342","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2023,8,16]]},"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor\/tezacaftor\/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator (\n                      <jats:italic>CFTR<\/jats:italic>\n                      ) gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      CFTR activity correction was studied by short-circuit current in HNEC cultures at basal state (dimethyl sulfoxide (DMSO)) and after ETI incubation and expressed as percentage of normal (wild-type (WT)) CFTR activity after sequential addition of forskolin and Inh-172 (\u0394\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sub>ETI\/DMSO<\/jats:sub>\n                      %WT).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      11 pwCF carried variants eligible for ETI according to the FDA label and 28 carried variants not listed by the FDA. ETI significantly increased CFTR activity of FDA-approved\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants (I601F, G85E, S492F, M1101K, R347P, R74W;V201M;D1270N and H1085R). We point out ETI correction of non-FDA-approved variants, including N1303K, R334W, R1066C, Q552P and terminal splicing variants (4374+1G&gt;A and 4096-3C&gt;G). \u0394\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sub>ETI\/DMSO<\/jats:sub>\n                      %WT was significantly correlated to change in percentage predicted forced expiratory volume in 1\u2005s and sweat chloride concentration (p&lt;0.0001 for both). G85E, R74W;V201M;D1270N, Q552P and M1101K were rescued more efficiently by other CFTR modulator combinations than ETI.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Primary nasal epithelial cells hold promise for expanding the prescription of CFTR modulators in pwCF carrying rare mutants. Additional variants should be discussed for ETI indication.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1183\/13993003.00110-2023","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T08:50:14Z","timestamp":1694422214000},"page":"2300110","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":100,"title":["Theratyping cystic fibrosis patients to guide elexacaftor\/tezacaftor\/ivacaftor out-of-label prescription"],"prefix":"10.1183","volume":"62","author":[{"given":"Elise","family":"Dreano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0903-9828","authenticated-orcid":false,"given":"Pierre 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