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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.
Afiliación
  • Southern KW; Women and Children's Health, University of Liverpool, Liverpool, United Kingdom. Electronic address: kwsouth@liv.ac.uk.
  • Castellani C; Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Lammertyn E; Cystic Fibrosis Europe & the Belgian Cystic Fibrosis Association, Brussels, Belgium.
  • Smyth A; Lifespan & Population Health, School of Medicine, University of Nottingham and the NIHR Nottingham Biomedical Research Unit, Nottingham, United Kingdom.
  • VanDevanter D; Case Western Reserve University School of Medicine, Cleveland, United States.
  • van Koningsbruggen-Rietschel S; CF Centre Cologne, Children's Hospital, Faculty of Medicine and University of Cologne, Kerpener Str. 62, Cologne 50937, Germany.
  • Barben J; Division of Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, Claudiusstr. 6, St. Gallen 9006, Switzerland.
  • Bevan A; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
  • Brokaar E; Haga Teaching Hospital, The Hague, The Netherlands.
  • Collins S; Royal Brompton & Harefield Hospitals, London, United Kingdom.
  • Connett GJ; National Institute for Health Research, Southampton Biomedical Research Centre, Southampton Children's Hospital, Southampton, United Kingdom.
  • Daniels TWV; University Hospital Southampton, Tremona Road, Southampton, Hampshire, United Kingdom.
  • Davies J; National Heart & Lung Institute, Imperial College London and Royal Brompton Hospital, Guy's & St Thomas' NHS Trust, London, United Kingdom.
  • Declercq D; Cystic Fibrosis Reference Centre, Ghent University Hospital, Gent, Belgium and Faculty of Medicine and Health Sciences, Ghent University, Gent, Belgium.
  • Gartner S; Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Gramegna A; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Respiratory Unit and Adult Cystic Fibrosis Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
  • Hamilton N; Inverness, Scotland, United Kingdom.
  • Hauser J; Tasmanian Adult Cystic Fibrosis Unit, Royal Hobart Hospital, Hobart, Tasmania, Australia.
  • Kashirskaya N; Research Centre for Medical Genetics, Moscow Regional Research and Clinical Institute, Moscow, Russia.
  • Kessler L; Department of Endocrinology, diabetes and nutrition, Alsace Adult CF centre, University Hospital Strasbourg, France.
  • Lowdon J; Leeds Children's Hospital, Leeds, United Kingdom.
  • Makukh H; SI "Institute of Hereditary Pathology of Ukranian NAMS", Lviv, Ukraine.
  • Martin C; Respiratory Medicine and Cystic Fibrosis National Reference Center Cochin Hospital AP-HP, Université Paris Cité Institut Cochin Inserm U1016, Paris France.
  • Morrison L; West of Scotland Adult CF Unit, Queen Elizabeth University Hospital, Glasgow, Scotland, United Kingdom.
  • Nazareth D; Liverpool Adult CF Unit, Liverpool Heart and Chest Hospital, United Kingdom.
  • Noordhoek J; CF Europe, Brussels, Belgium.
  • O'Neill C; Centre for Public Health, Queens University Belfast, Belfast, United Kingdom.
  • Owen E; Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, United Kingdom.
  • Oxley H; Manchester Adult CF Centre, Manchester University NHS Foundation Trust, United Kingdom.
  • Raraigh KS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, United States.
  • Raynal C; Laboratory of molecular genetics, University Hospital of Montpellier and INSERM U1046 PHYMEDEXP, Montpellier, France.
  • Robinson K; Johns Hopkins University, Baltimore, United States.
  • Roehmel J; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Germany.
  • Schwarz C; Division of Cystic Fibrosis, CF Centre Westbrandenburg, Campus Potsdam, Potsdam, Germany.
  • Sermet I; 1 INSERM U1151, Institut Necker Enfants Malades, Paris, France, and Centre de Références Maladies Rares, Mucoviscidose et Maladies apparentées, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP)-Centre, Paris, France, and AP-HP, Hôpital Universitaire Necker-Enfants Malades
  • Shteinberg M; Pulmonology Institute and CF Center, Carmel Medical Center and the Technion- Israel Institute of Technology Faculty of Medicine, Haifa, Israel.
  • Sinha I; Respiratory Department, Alder Hey Children's NHS Foundation Trust, Liverpool, UK and Women and Children's Health, University of Liverpool, Liverpool, United Kingdom.
  • Takawira C; Liverpool Adult CF Unit, Liverpool Heart and Chest Hospital, United Kingdom.
  • van Mourik P; Department of Pulmonology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Verkleij M; Department of Pediatric Psychology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Waller MD; King's College Hospital NHS Foundation Trust, London, UK and King's College London, London, United Kingdom.
  • Duff A; Leeds Children's Hospital, Leeds, United Kingdom.
J Cyst Fibros ; 22(1): 17-30, 2023 01.
Article en En | MEDLINE | ID: mdl-36916675
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.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Guideline Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2023 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Guideline Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2023 Tipo del documento: Article