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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
De Wachter, E; De Boeck, K; Sermet-Gaudelus, I; Simmonds, N J; Munck, A; Naehrlich, L; Barben, J; Boyd, C; Veen, S J; Carr, S B; Fajac, I; Farrell, P M; Girodon, E; Gonska, T; Grody, W W; Jain, M; Jung, A; Kerem, E; Raraigh, K S; van Koningsbruggen-Rietschel, S; Waller, M D; Southern, K W; Castellani, C.
Affiliation
  • De Wachter E; Cystic Fibrosis Center, Pediatric Pulmonology department, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. Electronic address: elke.dewachter@uzbrussel.be.
  • De Boeck K; Department of Pediatrics, University of Leuven, Leuven, Belgium.
  • Sermet-Gaudelus I; 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.
  • Simmonds NJ; Adult Cystic Fibrosis Centre, Royal Brompton Hospital and Imperial College, London, UK.
  • Munck A; Paediatric Cystic Fibrosis centre, Hôpital Necker Enfants Malades, AP-HP Paris, France.
  • Naehrlich L; Department of Pediatrics, Justus-Liebig-University Giessen, Germany.
  • Barben J; Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
  • Boyd C; Patient representative.
  • Veen SJ; Patient representative.
  • Carr SB; Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, and Imperial College, London, UK.
  • Fajac I; 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.
  • Farrell PM; Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
  • Girodon E; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP.Centre - Université de Paris Cité, Hôpital Cochin, Paris, France.
  • Gonska T; 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.
  • Grody WW; Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.
  • Jain M; Northwestern University Feinberg School of Medicine, Pulmonary Critical Care, Chicago, Illinois, United States.
  • Jung A; University Children`s Hospital Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.
  • Kerem E; Department of Pediatrics and CF Center, Hadassah Hebrew University medical Center, Jerusalem, Israel.
  • Raraigh KS; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
  • van Koningsbruggen-Rietschel S; CF Center Cologne, Children´s Hospital, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
  • Waller MD; 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.
  • Southern KW; Department of Women's and Children's Health, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.
  • Castellani C; IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.
J Cyst Fibros ; 23(3): 388-397, 2024 May.
Article in En | MEDLINE | ID: mdl-38388234
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis / Standard of Care Limits: Humans / Newborn Language: En Journal: J Cyst Fibros Year: 2024 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis / Standard of Care Limits: Humans / Newborn Language: En Journal: J Cyst Fibros Year: 2024 Document type: Article