Frontiers in Medicine | |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study | |
Medicine | |
Sridhar R. Allam1  Camilla Tøndel2  Iacopo Olivotto3  Olivier Lidove4  Yin-Hsiu Chien5  Daniel G. Bichet6  Juan Politei7  Robert J. Hopkin8  Dau-Ming Niu9  Staci Kallish1,10  Patrício Aguiar1,11  Roser Torra1,12  Derralynn A. Hughes1,13  Sabina Kineen1,14  Paul Rakoski1,14  Roberto Giugliani1,15  | |
[1] Burnett School of Medicine, Texas Christian University, Fort Worth, TX, United States;Tarrant Nephrology Associates/PPG Health, Fort Worth, TX, United States;Department of Clinical Science, University of Bergen, Bergen, Norway;Department of Pediatrics, Haukeland University Hospital, Bergen, Norway;Department of Experimental and Clinical Medicine, Meyer University Children’s Hospital, Florence, Italy;Department of Internal Medicine-Rheumatology, Croix Saint Simon Hospital, Paris, France;French Network of Inherited Metabolic Disorders (G2m), France;Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan;Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan;Department of Medicine, Pharmacology and Physiology, Hôpital du Sacré-Coeur, University of Montréal, Montreal, QC, Canada;Department of Neurology, Fundacion Para el Estudio de Enfermedades Neurometabolicas (FESEN), Buenos Aires, Argentina;Department of Pediatrics, Division of Human Genetics, University of Cincinnati College of Medicine, and Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, United States;Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, PA, United States;Inborn Errors of Metabolism Reference Center, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal;Faculty of Medicine, Lisbon University, Lisbon, Portugal;Inherited Kidney Disorders, Department of Nephrology, Fundació Puigvert, Institut d’Investigació Biomèdica Sant Pau (IIB-SANT PAU), Universitat Autònoma de Barcelona, Barcelona, Spain;Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, United Kingdom;Patient Advocate, United States;Postgraduate Program in Genetics and Molecular Biology (PPGBM) at Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil;BioDiscovery Laboratory at Hospital de Clinicas de Porto Alegre (HCPA), National Institute of Population Medical Genetics (INAGEMP), DASA, Casa dos Raros, Porto Alegre, Brazil; | |
关键词: chaperone therapy; alpha-galactosidase A; globotriaosylsphingosine; amenability; treatment decisions; patient journey; | |
DOI : 10.3389/fmed.2023.1220637 | |
received in 2023-05-10, accepted in 2023-07-13, 发布年份 2023 | |
来源: Frontiers | |
【 摘 要 】
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat.MethodsA modified Delphi process was conducted to determine consensus on treatment decisions and monitoring of patients with Fabry disease receiving migalastat. The multidisciplinary panel comprised 14 expert physicians across nine specialties and two patients with Fabry disease. Two rounds of Delphi surveys were completed and recommendations on the use of biomarkers, multidisciplinary monitoring, and treatment decisions were generated based on statements that reached consensus.ResultsThe expert panel reached consensus agreement on 49 of 54 statements, including 16 that reached consensus in round 1. Statements that reached consensus agreement are summarized in recommendations for migalastat treatment and monitoring, including baseline and follow-up assessments and frequency. All patients with Fabry disease and an amenable mutation may initiate migalastat treatment if they have evidence of Fabry-related symptoms and/or organ involvement. Treatment decisions should include holistic assessment of the patient, considering clinical symptoms and organ involvement as well as patient-reported outcomes and patient preference. The reliability of α-Gal A and globotriaosylsphingosine as pharmacodynamic response biomarkers remains unclear.ConclusionThese recommendations build on previously published guidelines to highlight the importance of holistic, multidisciplinary monitoring for patients with Fabry disease receiving migalastat, in addition to shared decision-making regarding treatments and monitoring throughout the patient journey.GRAPHICAL ABSTRACT
【 授权许可】
Unknown
Copyright © 2023 Bichet, Hopkin, Aguiar, Allam, Chien, Giugliani, Kallish, Kineen, Lidove, Niu, Olivotto, Politei, Rakoski, Torra, Tøndel and Hughes.
【 预 览 】
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RO202310107344697ZK.pdf | 2857KB | download |