Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease

Winnie M Leung; Parastoo Molla Davoodi; Ashten Langevin; Clare Smith; Michael D Parkins

doi:10.1016/j.rmcr.2023.101938

Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease

Respir Med Case Rep. 2023 Oct 17:46:101938. doi: 10.1016/j.rmcr.2023.101938. eCollection 2023.

Authors

Winnie M Leung^{1

2}, Parastoo Molla Davoodi², Ashten Langevin³, Clare Smith³, Michael D Parkins^{3

4}

Affiliations

¹ Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, T6G 2R7, Canada.
² Edmonton Adult Cystic Fibrosis Clinic, Kaye Edmonton Clinic, Alberta Health Services, Edmonton, Alberta, T6G 1Z1, Canada.
³ Calgary Adult Cystic Fibrosis Clinic, Foothills Medical Centre, Alberta Health Services, Calgary, Alberta, T2N 2T9, Canada.
⁴ Department of Medicine, The University of Calgary, Calgary, Alberta, T2N 1N4, Canada.

Abstract

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.

Keywords: CFTR modulator; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Elexacaftor-tezacaftor-ivacaftor.

Publication types

Case Reports