Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease.
| Autor: | Leung WM; Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2R7, Canada.; Edmonton Adult Cystic Fibrosis Clinic, Kaye Edmonton Clinic, Alberta Health Services, Edmonton, Alberta, T6G 1Z1, Canada., Davoodi PM; Edmonton Adult Cystic Fibrosis Clinic, Kaye Edmonton Clinic, Alberta Health Services, Edmonton, Alberta, T6G 1Z1, Canada., Langevin A; Calgary Adult Cystic Fibrosis Clinic, Foothills Medical Centre, Alberta Health Services, Calgary, Alberta, T2N 2T9, Canada., Smith C; Calgary Adult Cystic Fibrosis Clinic, Foothills Medical Centre, Alberta Health Services, Calgary, Alberta, T2N 2T9, Canada., Parkins MD; Calgary Adult Cystic Fibrosis Clinic, Foothills Medical Centre, Alberta Health Services, Calgary, Alberta, T2N 2T9, Canada.; Department of Medicine, The University of Calgary, Calgary, Alberta, T2N 1N4, Canada. |
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| Jazyk: | angličtina |
| Zdroj: | Respiratory medicine case reports [Respir Med Case Rep] 2023 Oct 17; Vol. 46, pp. 101938. Date of Electronic Publication: 2023 Oct 17 (Print Publication: 2023). |
| DOI: | 10.1016/j.rmcr.2023.101938 |
| Abstrakt: | Elexacaftor-tezacaftor-ivacaftor (ETI) therapy is shown to improve the health of individuals with cystic fibrosis (CF) who have the F508del variant. There are in vitro studies showing benefit with ETI for select rare CF variants. Limited data exists on the use of ETI in individuals with rare CF variants, particularly in those with advanced lung disease. We present 2 cases of CF individuals homozygous for the rare M1101K variant with end-stage lung disease who demonstrated sustained improvements in lung function, pulmonary exacerbation frequency, respiratory symptoms, and body mass index after 6 months of ETI treatment - similar to that expected with F508del. Competing Interests: WML and MDP are site investigators for Vertex Pharmaceuticals clinical trials. PMD, AL and CS declare no competing interests associated with this manuscript. (© 2023 The Authors.) |
| Databáze: | MEDLINE |
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