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

AGUIAR P; ROZENFELD PA; HUGHES D

British Medical Journal Open

BMJ

Año: 2020

2044-6055

Objectives The PRoposing Early Disease Indicators forClinical Tracking in Fabry Disease (PREDICT-FD) initiativeaimed to reach consensus among a panel of global expertson early indicators of disease progression that may justifyFD-specific treatment initiation.Design and setting Anonymous feedback from panellistsvia online questionnaires was analysed using a modifiedDelphi consensus technique. Questionnaires and datawere managed by an independent administrator directedby two non-voting cochairs. First, possible early indicatorsof renal, cardiac and central/peripheral nervous system(CNS/PNS) damage, and other disease and patientreported indicators assessable in routine clinical practicewere compiled by the cochairs and administrator frompanellists? free-text responses. Second, the panel scoredindicators 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% ofpanellists achieved consensus. Finally, any panel-proposedrefinements to consensus indicator definitions wereadopted if >75% of panellists agreed.Results A panel of 21 expert clinicians from 15 countriesprovided information from which 83 possible currentindicators of damage (kidney, 15; cardiac, 15; CNS/PNS,13; other, 16; patient reported, 24) were compiled. Of 45indicators meeting the importance criteria, consensuswas reached for 29 and consolidated as 27 indicators(kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patientreported, 3) including: (kidney) elevated albumin:creatinineratio, histological damage, microalbuminuria; (cardiac)markers of early systolic/diastolic dysfunction, elevatedserum cardiac troponin; (CNS/PNS) neuropathic pain,