Table 2

Summary of FACE definitions across various Fabry studies

TreatmentMigalastat
N=97
Agalsidase beta
N=52
Agalsidase beta
N=40
Agalsidase alfa or beta
N=178
Agalsidase alfa or beta
N=387
Agalsidase beta
N=1411
Migalastat
N=31
Agalsidase beta
N=51
Migalastat, N=36Agalsidase beta
N=1044
Author, yearCurrent analysisGermain,
2015
Weidemann,
2013
Sirrs,
2014
Arends,
2018
Hopkin,
2016
Feldt-Rasmussen, 2020Banikazemi, 2007Hughes,
2017
Ortiz,
2016
Patient populationPts with amenable mutations
(37 M; 60 F)
Adult pts with classic FD
(50 M; 2 F)
Adult pts with advanced FD
(31 M; 9 F)
Pts with FD meeting Canadian ERT criteria
(100 M; 78 F)
Pts with FD
(195 M; 192 F)
Pts in the Fabry Registry
(969 M; 442 F)
ERT-experienced pts with amenable mutations
(16 M; 17 F)*
Adult pts with advanced FD
(45 M; 6 F)
ERT-experienced pts with amenable mutations
(16 M; 20 F)
Pts in the Fabry Registry
(641 M; 403 F)
Length of follow-up, median5 y10 y6 y5 y5 yM: 4 y
F: 3 y
2.5 y1.5 y1.5 yNR†
Events overall, % of patients18%19%33%27%27%M: 21%;
F: 13%
32%28%29%17%
Renal events, % of patients2%7.7%10%3%‡3%‡M: 7%;
F: 2%
29%20%24%6%
Cardiac events, % of patients12%4%15%17%14%M: 9%;
F: 7%
3%6%6%7%
Cerebrovascular events, % of patients5%10%10%8%7%M: 5%;
F: 3%
0%0%0%3%
Death, % of patients0%18%5%3%M: 4%;
F: 1%
0%2%0%1%
Death due toFabry diseaseAny causeAny causeAny causeAny cause§Fabry diseaseAny causeAny causeAny cause
  • Studies in the table are ordered by longest to shortest median follow-up time. Definitions of renal events include various combinations of: end-stage renal disease; dialysis; transplant; serum creatinine (predefined increase); increased urinary protein (predefined) and GFR decrease (predefined rate). Definitions of cardiac events included various combinations of: cardiac-related death; myocardial infarction; chronic heart failure; atrial fibrillation; ventricular tachyarrhythmia; symptomatic arrhythmia requiring medication or intervention; heart disease progressive enough to require a pacemaker; bypass surgery (CABG); coronary artery dilation; implantation of cardioverter or defibrillator; direct cardioversion; unstable angina; percutaneous transluminal coronary angioplasty; valve replacement surgery; stent; acute coronary syndrome; heart block; cardiac arrest and cardiac ablation. Definitions of cerebrovascular events included various combinations of: stroke; transient ischaemic attack and acute hearing loss. Full details of definitions of each event type are included in online supplemental table 4.

  • *33 patients were originally included in the open-label population; 2 patients were subsequently found to have non-amenable variants by Good Laboratory Practice validated migalastat amenability assay and were excluded from the efficacy analyses.

  • †Median follow-up duration was not reported. Maximum follow-up was 5 years.

  • ‡Patients needing renal replacement therapy; excludes patients who had end-stage renal disease at study entry.

  • §Non-cardiac death.

  • CABG, coronary artery bypass grafting; ERT, enzyme replacement therapy; F, female; GFR, glomerular filtration rate; M, male; NR, not reported; y, years.