Elexacaftor/tezacaftor/ivacaftor for cystic fibrosis and rare <i>CFTR</i> variants: in vitro translation to a phase 3, double-blind, randomized, placebo-controlled trial, and real-world study
In vitro, clinical, and real-world data support elexacaftor/tezacaftor/ivacaftor treatment in people carrying a range of CFTR variants and no F508del. The response of 84% of rare CFTR variants that produce protein to protein-stabilizing therapy suggests variants in many regions of the protein causes disease via protein destabilization.
Authors
- Sheena Saayman
- F. Alghisi
- B. Quon
- I. Fajac
- Neil Ahluwalia (ORCID: https://orcid.org/0000-0001-6262-401X)
- Tanya G. Weinstock
- Benedetta Fabrizzi (ORCID: https://orcid.org/0000-0003-2358-5470)
- Elizabeth W. Tullis
- Carlo Castellani (ORCID: https://orcid.org/0000-0003-1916-0963)
- M. Mahic
- David Altshuler (ORCID: https://orcid.org/0000-0002-7250-4107)
- Lingyun Liu (ORCID: https://orcid.org/0000-0002-5278-1422)
- Fredrick Van Goor
- Edward F McKone
- Vincent Tan
- David Waltz
- Bonnie Ramsey
- Jennifer L Taylor-Cousar
- Marcus A Mall
Institutions
- St. Michael's Hospital (CA)
- Université Paris Cité (FR)
- Istituto Giannina Gaslini (IT)
- National Jewish Health (US)
- Sorbonne Paris Cité (FR)
- Seattle Children's Hospital (US)
- St. Vincent's University Hospital (IE)
- Presidio Ospedaliero (IT)
- Bambino Gesù Children's Hospital (IT)
- German Centre for Cardiovascular Research (DE)
- German Center for Lung Research (DE)
- St. Paul's Hospital (CA)
- Hospital Universitario Virgen de la Arrixaca (ES)
- Vertex Pharmaceuticals (United States) (US)
- Charité - Universitätsmedizin Berlin (DE)
- University of Colorado Denver (US)
Publication Details
- Journal
- American Journal of Respiratory and Critical Care Medicine
- Published
- 2026-01-23
- DOI
- https://doi.org/10.1093/ajrccm/aamaf001
- Citations
- 1
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 36.44