Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Southern, Kevin W.; Castellani, Carlo; Lammertyn, Elise; Smyth, Alan; VanDevanter, Donald; van Koningsbruggen-Rietschel, Silke; Barben, Jürg; Bevan, Amanda; Brokaar, Edwin; Collins, Sarah; Connett, Gary J.; Daniels, Thomas W.V.; Davies, Jane; Declercq, Dimitri; Gartner, Silvia; Gramegna, Andrea; Hamilton, Naomi; Hauser, Jenny; Kashirskaya, Nataliya; Kessler, Laurence; Lowdon, Jacqueline; Makukh, Halyna; Martin, Clémence; Morrison, Lisa; Nazareth, Dilip; Noordhoek, Jacquelien; O'Neill, Ciaran; Owen, Elizabeth; Oxley, Helen; Raraigh, Karen S.; Raynal, Caroline; Robinson, Karen; Roehmel, Jobst; Schwarz, Carsten; Sermet, Isabelle; Shteinberg, Michal; Sinha, Ian; Takawira, Constance; van Mourik, Peter; Verkleij, Marieke; Waller, Michael D.; Duff, Alistair

Abstract

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF. The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy. We have produced interim standards to guide healthcare professionals in the provision of variant-specific therapy for people with CF. Here we provide evidence-based guidance covering the spectrum of care, established using evidence from systematic reviews and expert opinion. Statements were reviewed by key stakeholders using Delphi methodology, with agreement (≥80%) achieved for all statements after one round of consultation. Issues around accessibility are discussed and there is clear consensus that all eligible people with CF should have access to variant-specific therapy.

Citation

Southern, K. W., Castellani, C., Lammertyn, E., Smyth, A., VanDevanter, D., van Koningsbruggen-Rietschel, S., …Duff, A. (2023). Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis. Journal of Cystic Fibrosis, 22(1), 17-30. https://doi.org/10.1016/j.jcf.2022.10.002

• Journal Article Type: Article
• Acceptance Date: Oct 10, 2022
• Online Publication Date: Oct 27, 2022
• Publication Date: 2023-01
• Deposit Date: Nov 4, 2022
• Publicly Available Date: Nov 10, 2022
• Journal: Journal of Cystic Fibrosis
• Print ISSN: 1569-1993
• Electronic ISSN: 1873-5010
• Publisher: Elsevier
• Peer Reviewed: Peer Reviewed
• Volume: 22
• Issue: 1
• Pages: 17-30
• DOI: https://doi.org/10.1016/j.jcf.2022.10.002
• Keywords: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health
• Public URL: https://nottingham-repository.worktribe.com/output/13181522
• Publisher URL: https://www.cysticfibrosisjournal.com/article/S1569-1993(22)01385-6/fulltext