Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

Carlo Castellani; Nicholas J Simmonds; Jürg Barben; Charlotte Addy; Amanda Bevan; Pierre-Régis Burgel; Pavel Drevinek; Silvia Gartner; Andrea Gramegna; Elise Lammertyn; Eddie Edwina C Landau; Peter G Middleton; Barry J Plant; Alan R Smyth; Silke van Koningsbruggen-Rietschel; Emmanuelle Girodon; Nataliya Kashirskaya; Anne Munck; Lutz Nährlich; Karen Raraigh; Isabelle Sermet-Gaudelus; Olaf Sommerburg; Kevin W Southern

doi:10.1016/j.jcf.2023.09.008

Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

Carlo Castellani, Nicholas J Simmonds, Jürg Barben, Charlotte Addy, Amanda Bevan, Pierre-Régis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie Edwina C Landau, Peter G Middleton, Barry J Plant, Alan R Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nährlich, Karen RaraighIsabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W Southern

School of Medicine, Dentistry and Biomedical Sciences

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

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Abstract

There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.

Original language	English
Journal	Journal of Cystic Fibrosis
Early online date	27 Sept 2023
DOIs	https://doi.org/10.1016/j.jcf.2023.09.008
Publication status	Published - 27 Sept 2023

Keywords

CFSPID
CRMS/CFSPID
Extended Gene Analysis (EGA)
Cystic fibrosis
CFTR-related disorder
Newborn Bloodspot Screening (NBS)
CFTR

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Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis
Copyright 2023 Elsevier. This manuscript is distributed under a Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits distribution and reproduction for non-commercial purposes, provided the author and source are cited.
Accepted author manuscript, 417 KBLicence: CC BY-NC-ND

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Castellani, C., Simmonds, N. J., Barben, J., Addy, C., Bevan, A., Burgel, P.-R., Drevinek, P., Gartner, S., Gramegna, A., Lammertyn, E., Landau, E. E. C., Middleton, P. G., Plant, B. J., Smyth, A. R., van Koningsbruggen-Rietschel, S., Girodon, E., Kashirskaya, N., Munck, A., Nährlich, L., ... Southern, K. W. (2023). Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis. Journal of Cystic Fibrosis. https://doi.org/10.1016/j.jcf.2023.09.008

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title = "Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis",

abstract = "There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF. ",

keywords = "CFSPID, CRMS/CFSPID, Extended Gene Analysis (EGA), Cystic fibrosis, CFTR-related disorder, Newborn Bloodspot Screening (NBS), CFTR",

author = "Carlo Castellani and Simmonds, {Nicholas J} and J{\"u}rg Barben and Charlotte Addy and Amanda Bevan and Pierre-R{\'e}gis Burgel and Pavel Drevinek and Silvia Gartner and Andrea Gramegna and Elise Lammertyn and Landau, {Eddie Edwina C} and Middleton, {Peter G} and Plant, {Barry J} and Smyth, {Alan R} and {van Koningsbruggen-Rietschel}, Silke and Emmanuelle Girodon and Nataliya Kashirskaya and Anne Munck and Lutz N{\"a}hrlich and Karen Raraigh and Isabelle Sermet-Gaudelus and Olaf Sommerburg and Southern, {Kevin W}",

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language = "English",

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Castellani, C, Simmonds, NJ, Barben, J, Addy, C, Bevan, A, Burgel, P-R, Drevinek, P, Gartner, S, Gramegna, A, Lammertyn, E, Landau, EEC, Middleton, PG, Plant, BJ, Smyth, AR, van Koningsbruggen-Rietschel, S, Girodon, E, Kashirskaya, N, Munck, A, Nährlich, L, Raraigh, K, Sermet-Gaudelus, I, Sommerburg, O & Southern, KW 2023, 'Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis', Journal of Cystic Fibrosis. https://doi.org/10.1016/j.jcf.2023.09.008

TY - JOUR

T1 - Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

AU - Castellani, Carlo

AU - Simmonds, Nicholas J

AU - Barben, Jürg

AU - Addy, Charlotte

AU - Bevan, Amanda

AU - Burgel, Pierre-Régis

AU - Drevinek, Pavel

AU - Gartner, Silvia

AU - Gramegna, Andrea

AU - Lammertyn, Elise

AU - Landau, Eddie Edwina C

AU - Middleton, Peter G

AU - Plant, Barry J

AU - Smyth, Alan R

AU - van Koningsbruggen-Rietschel, Silke

AU - Girodon, Emmanuelle

AU - Kashirskaya, Nataliya

AU - Munck, Anne

AU - Nährlich, Lutz

AU - Raraigh, Karen

AU - Sermet-Gaudelus, Isabelle

AU - Sommerburg, Olaf

AU - Southern, Kevin W

PY - 2023/9/27

Y1 - 2023/9/27

N2 - There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.

AB - There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.

KW - CFSPID

KW - CRMS/CFSPID

KW - Extended Gene Analysis (EGA)

KW - Cystic fibrosis

KW - CFTR-related disorder

KW - Newborn Bloodspot Screening (NBS)

KW - CFTR

U2 - 10.1016/j.jcf.2023.09.008

DO - 10.1016/j.jcf.2023.09.008

M3 - Article

C2 - 37775442

SN - 1569-1993

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

ER -

Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

Abstract

Keywords

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