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

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

doi:10.1016/j.jcf.2022.10.002

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

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

^*Corresponding author for this work

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

34 Citations (Scopus)

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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.

Original language	English
Pages (from-to)	17-30
Number of pages	14
Journal	Journal of Cystic Fibrosis
Volume	22
Issue number	1
Early online date	27 Oct 2022
DOIs	https://doi.org/10.1016/j.jcf.2022.10.002
Publication status	Published - Jan 2023

Keywords

CFTR
CFTR modulators
Cystic fibrosis
Guidelines
Variant-specific therapy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pulmonary and Respiratory Medicine

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10.1016/j.jcf.2022.10.002Licence: CC BY

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis
Copyright 2023 the authors. This is an open access article published under a Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium, provided the author and source are cited.
Final published version, 1.16 MBLicence: CC BY

Cite this

Southern, K. W., Castellani, C., Lammertyn, E., Smyth, A., VanDevanter, D., van Koningsbruggen-Rietschel, S., Barben, J., Bevan, A., Brokaar, E., Collins, S., Connett, G. J., Daniels, T. W. V., Davies, J., Declercq, D., Gartner, S., Gramegna, A., Hamilton, N., Hauser, J., Kashirskaya, N., ... 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

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

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.",

keywords = "CFTR, CFTR modulators, Cystic fibrosis, Guidelines, Variant-specific therapy",

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

year = "2023",

month = jan,

doi = "10.1016/j.jcf.2022.10.002",

language = "English",

volume = "22",

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journal = "Journal of Cystic Fibrosis",

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Southern, KW, Castellani, C, Lammertyn, E, Smyth, A, VanDevanter, D, van Koningsbruggen-Rietschel, S, Barben, J, Bevan, A, Brokaar, E, Collins, S, Connett, GJ, Daniels, TWV, Davies, J, Declercq, D, Gartner, S, Gramegna, A, Hamilton, N, Hauser, J, Kashirskaya, N, Kessler, L, Lowdon, J, Makukh, H, Martin, C, Morrison, L, Nazareth, D, Noordhoek, J, O'Neill, C, Owen, E, Oxley, H, Raraigh, KS, Raynal, C, Robinson, K, Roehmel, J, Schwarz, C, Sermet, I, Shteinberg, M, Sinha, I, Takawira, C, van Mourik, P, Verkleij, M, Waller, MD & Duff, A 2023, 'Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis', Journal of Cystic Fibrosis, vol. 22, no. 1, pp. 17-30. https://doi.org/10.1016/j.jcf.2022.10.002

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T1 - Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

AU - Southern, Kevin W.

AU - Castellani, Carlo

AU - Lammertyn, Elise

AU - Smyth, Alan

AU - VanDevanter, Donald

AU - van Koningsbruggen-Rietschel, Silke

AU - Barben, Jürg

AU - Bevan, Amanda

AU - Brokaar, Edwin

AU - Collins, Sarah

AU - Connett, Gary J.

AU - Daniels, Thomas W.V.

AU - Davies, Jane

AU - Declercq, Dimitri

AU - Gartner, Silvia

AU - Gramegna, Andrea

AU - Hamilton, Naomi

AU - Hauser, Jenny

AU - Kashirskaya, Nataliya

AU - Kessler, Laurence

AU - Lowdon, Jacqueline

AU - Makukh, Halyna

AU - Martin, Clémence

AU - Morrison, Lisa

AU - Nazareth, Dilip

AU - Noordhoek, Jacquelien

AU - O'Neill, Ciaran

AU - Owen, Elizabeth

AU - Oxley, Helen

AU - Raraigh, Karen S.

AU - Raynal, Caroline

AU - Robinson, Karen

AU - Roehmel, Jobst

AU - Schwarz, Carsten

AU - Sermet, Isabelle

AU - Shteinberg, Michal

AU - Sinha, Ian

AU - Takawira, Constance

AU - van Mourik, Peter

AU - Verkleij, Marieke

AU - Waller, Michael D.

AU - Duff, Alistair

PY - 2023/1

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N2 - 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.

AB - 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.

KW - CFTR

KW - CFTR modulators

KW - Cystic fibrosis

KW - Guidelines

KW - Variant-specific therapy

U2 - 10.1016/j.jcf.2022.10.002

DO - 10.1016/j.jcf.2022.10.002

M3 - Article

AN - SCOPUS:85141305884

SN - 1569-1993

VL - 22

SP - 17

EP - 30

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - 1

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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