ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals

E De Wachter¹, K De Boeck², I Sermet-Gaudelus³, N J Simmonds⁴, A Munck⁵, L Naehrlich⁶, J Barben⁷, C Boyd⁸, S J Veen⁸, S B Carr⁹, I Fajac¹⁰, P M Farrell¹¹, E Girodon¹², T Gonska¹³, W W Grody¹⁴, M Jain¹⁵, A Jung¹⁶, E Kerem¹⁷, K S Raraigh¹⁸, S van Koningsbruggen-Rietschel¹⁹, M D Waller²⁰, K W Southern²¹, C Castellani²²; ECFS Diagnostic Network Working Group

Affiliations

¹ Cystic Fibrosis Center, Pediatric Pulmonology department, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. Electronic address: elke.dewachter@uzbrussel.be.
² Department of Pediatrics, University of Leuven, Leuven, Belgium.
³ INSERM U1151, Institut Necker Enfants Malades, Paris, France; Université de Paris, Paris, France; Centre de référence Maladies Rares, Mucoviscidose et maladies apparentées. Hôpital Necker Enfants malades, Paris, France.
⁴ Adult Cystic Fibrosis Centre, Royal Brompton Hospital and Imperial College, London, UK.
⁵ Paediatric Cystic Fibrosis centre, Hôpital Necker Enfants Malades, AP-HP Paris, France.
⁶ Department of Pediatrics, Justus-Liebig-University Giessen, Germany.
⁷ Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
⁸ Patient representative.
⁹ Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, and Imperial College, London, UK.
¹⁰ Assistance Publique-Hôpitaux de Paris, Thoracic Department and National Cystic Fibrosis Reference Centre, Cochin Hospital, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 75014 Paris, France.
¹¹ Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
¹² Service de Médecine Génomique des Maladies de Système et d'Organe, APHP.Centre - Université de Paris Cité, Hôpital Cochin, Paris, France.
¹³ Division of Pediatric Gastroenterology, Hepatology, Nutrition, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Program of Translational Medicine, Research institute, Hospital for Sick Children, Toronto, Canada.
¹⁴ Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.
¹⁵ Northwestern University Feinberg School of Medicine, Pulmonary Critical Care, Chicago, Illinois, United States.
¹⁶ University Children`s Hospital Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.
¹⁷ Department of Pediatrics and CF Center, Hadassah Hebrew University medical Center, Jerusalem, Israel.
¹⁸ Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
¹⁹ CF Center Cologne, Children´s Hospital, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
²⁰ Department of Adult Cystic Fibrosis and Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, United Kingdom; Centre for Human & Applied Physiological Sciences, King's College London, London, United Kingdom.
²¹ Department of Women's and Children's Health, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.
²² IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.

PMID: 38388234
DOI: 10.1016/j.jcf.2024.01.012

Review

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals

E De Wachter et al. J Cyst Fibros. 2024 May.

. 2024 May;23(3):388-397.

doi: 10.1016/j.jcf.2024.01.012. Epub 2024 Feb 22.

Authors

Affiliations

¹ Cystic Fibrosis Center, Pediatric Pulmonology department, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. Electronic address: elke.dewachter@uzbrussel.be.
² Department of Pediatrics, University of Leuven, Leuven, Belgium.
³ INSERM U1151, Institut Necker Enfants Malades, Paris, France; Université de Paris, Paris, France; Centre de référence Maladies Rares, Mucoviscidose et maladies apparentées. Hôpital Necker Enfants malades, Paris, France.
⁴ Adult Cystic Fibrosis Centre, Royal Brompton Hospital and Imperial College, London, UK.
⁵ Paediatric Cystic Fibrosis centre, Hôpital Necker Enfants Malades, AP-HP Paris, France.
⁶ Department of Pediatrics, Justus-Liebig-University Giessen, Germany.
⁷ Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
⁸ Patient representative.
⁹ Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, and Imperial College, London, UK.
¹⁰ Assistance Publique-Hôpitaux de Paris, Thoracic Department and National Cystic Fibrosis Reference Centre, Cochin Hospital, 75014 Paris, France; Université Paris Cité, Inserm U1016, Institut Cochin, 75014 Paris, France.
¹¹ Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
¹² Service de Médecine Génomique des Maladies de Système et d'Organe, APHP.Centre - Université de Paris Cité, Hôpital Cochin, Paris, France.
¹³ Division of Pediatric Gastroenterology, Hepatology, Nutrition, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Program of Translational Medicine, Research institute, Hospital for Sick Children, Toronto, Canada.
¹⁴ Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.
¹⁵ Northwestern University Feinberg School of Medicine, Pulmonary Critical Care, Chicago, Illinois, United States.
¹⁶ University Children`s Hospital Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.
¹⁷ Department of Pediatrics and CF Center, Hadassah Hebrew University medical Center, Jerusalem, Israel.
¹⁸ Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
¹⁹ CF Center Cologne, Children´s Hospital, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
²⁰ Department of Adult Cystic Fibrosis and Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, United Kingdom; Centre for Human & Applied Physiological Sciences, King's College London, London, United Kingdom.
²¹ Department of Women's and Children's Health, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.
²² IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.

PMID: 38388234
DOI: 10.1016/j.jcf.2024.01.012

Abstract

After three publications defining an updated guidance on the diagnostic criteria for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (pwCFTR-RDs), establishing its relationship to CFTR-dysfunction and describing the individual disorders, this fourth and last paper in the series addresses some critical challenges facing health care providers and pwCFTR-RD. Topics included are: 1) benefits and obstacles to collect data from pwCFTR-RD are discussed, together with the opportunity to integrate them into established CF-registries; 2) the potential of infants designated CRMS/CFSPID to develop a CFTR-RD and how to communicate this information; 3) a description of the challenges in genetic counseling, with particular regard to phenotypic variability, unknown long-term evolution, CFTR testing and pregnancy termination 4) a proposal for the assessment of potential barriers to the implementation and dissemination of the produced documents to health care professionals involved in the care of pwCFTR-RD and a process to monitor the implementation of the CFTR-RD recommendations; 5) clinical trials investigating the efficacy of CFTR modulators in CFTR-RD and how endpoints and outcomes might be adapted to the heterogeneity of these disorders.

Keywords: CF-registry; CFTR; CFTR-RD; CFTR-related disorder; CRMS/CFSPID; Clinical trials, genetic counseling; Cystic fibrosis; Genetics.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals

Affiliations

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals

Authors

Affiliations

Abstract

Conflict of interest statement

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LinkOut - more resources

Full Text Sources

Medical

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