Summary of FACE definitions across various Fabry studies
| Treatment | Migalastat 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=36 | Agalsidase beta N=1044 |
| Author, year | Current analysis | Germain, 2015 | Weidemann, 2013 | Sirrs, 2014 | Arends, 2018 | Hopkin, 2016 | Feldt-Rasmussen, 2020 | Banikazemi, 2007 | Hughes, 2017 | Ortiz, 2016 |
| Patient population | Pts 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, median | 5 y | 10 y | 6 y | 5 y | 5 y | M: 4 y F: 3 y | 2.5 y | 1.5 y | 1.5 y | NR† |
| Events overall, % of patients | 18% | 19% | 33% | 27% | 27% | M: 21%; F: 13% | 32% | 28% | 29% | 17% |
| Renal events, % of patients | 2% | 7.7% | 10% | 3%‡ | 3%‡ | M: 7%; F: 2% | 29% | 20% | 24% | 6% |
| Cardiac events, % of patients | 12% | 4% | 15% | 17% | 14% | M: 9%; F: 7% | 3% | 6% | 6% | 7% |
| Cerebrovascular events, % of patients | 5% | 10% | 10% | 8% | 7% | M: 5%; F: 3% | 0% | 0% | 0% | 3% |
| Death, % of patients | 0% | 18% | 5% | 3% | M: 4%; F: 1% | 0% | 2% | 0% | 1% | |
| Death due to | Fabry disease | Any cause | Any cause | Any cause | Any cause§ | Fabry disease | Any cause | Any cause | Any 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 file 1.
*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.