Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation : findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Hughes, Derralynn A. (University College London)
Aguiar, Patrício (University of Lisbon)
Deegan, Patrick B. (University of Cambridge)
Ezgu, Fatih (Gazi University)
Frustaci, Andrea (University of Rome La Sapienza)
Lidove, Olivier (Croix Saint Simon Hospital)
Linhart, Aleš (Charles University. Faculty of Medicine in Hradec Králové)
Lubanda, Jean-Claude (Charles University. Faculty of Medicine in Hradec Králové)
Moon, James C. (Barts Heart Centre)
Nicholls, Kathleen (The University of Melbourne)
Niu, Dau-Ming (National Yang-Ming University)
Nowak, Albina (University Hospital Zurich (Suïssa))
Ramaswami, Uma (Royal Free Hospital)
Reisin, Ricardo (British Hospital of Buenos Aires)
Rozenfeld, Paula (Instituto de Estudios Inmunológicos y Fisiopatológicos, UNLP - CONICET, La Plata, Argentina)
Schiffmann, Raphael (Baylor Research Institute)
Svarstad, Einar (Haukeland University Hospital (Bergen, Noruega))
Thomas, Mark (Cincinnati Children's Hospital Medical Center)
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Vujkovac, Bojan (General Hospital Slovenj Gradec)
Warnock, David G. (University of Alabama at Birmingham)
West, Michael L. (Dalhousie University)
Johnson, Jack (Fabry International Network)
Rolfe, Mark J. (Oxford Pharmagenesis)
Feriozzi, Sandro (Belcolle Hospital)
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central/peripheral nervous system (CNS/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists' free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ≥3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ≥4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic/diastolic dysfunction, elevated serum cardiac troponin; (CNS/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was >95% at all stages. PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Genetics ; Cardiomyopathy ; Chronic renal failure ; Stroke medicine
Published in:	BMJ open, Vol. 10 (october 2020) , ISSN 2044-6055

DOI: 10.1136/bmjopen-2019-035182
PMID: 33039984

12 p, 1.2 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles