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Table 1 Effect of ERT on clinical outcomes in FOS patients

From: Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

System Effect of ERT Publication
Cardiovascular Mean LVMI increased slightly but significantly over 10 years in patients with LVH at baseline, compared with no increases in patients with no LVH at baseline Kampmann et al. [37]
Ramaswami et al. [38]
LVH was a significantly better predictor of long-term cardiovascular outcomes than normal LVMI in adults at the start of ERT Feriozzi et al. [39]
Patients with a low eGFR at baseline had a significantly higher risk for a cardiovascular event compared to those with normal eGFR  
Cardiovascular structure and function improved, and renal function stabilized during treatment, although LVMI was only reduced significantly in female patients Hughes et al. [41]
Composite morbidity events occurred at an older age compared with published findings in untreated patients with FD Beck et al. [47]
Renal Stabilization of eGFR in female patients
10-year longitudinal data: Reduction in the annual rate of eGFR decline was smaller in treated male patients than expected in untreated patients
Mehta et al. [26]
Feriozzi et al. [52]
Feriozzi et al. [53]
Ramaswami et al. [38]
Patients with hyperfiltration (eGFR > 130 mL/min/1.73m2) at baseline attained an eGFR within the accepted normal range (> 90 mL/min/1.73m2) with 5 years of starting ERT Mehta et al. [26]
Renal function remained stable in 20 patients with FD who had undergone kidney transplantation and who had received ERT Cybulla et al. [56]
Renoprotective effect of ERT is independent of the type of FD mutation Cybulla et al. [40]
Morbidity and Mortality Most common cause of death shifted from renal disease (pre-2001) to cardiovascular disease (post-2001) Mehta et al. [48]
Median survival for male ERT-treated patients at 5 years was 17.5 years longer than for untreated male patients Beck et al. [36]
Probability of a composite morbidity event for ERT vs. placebo was ~ 16% vs. ~ 45% Beck et al. [36]
Auditory Stabilized and/or decreased the progression of hearing loss in FD Hajioff et al. [62]
Gastrointestinal Prevalence of abdominal pain in male patients and children and prevalence of diarrhea was significantly reduced after 1 year of ERT Hoffmann et al. [63, 64]
Pain Improved patient pain levels as assessed by the Brief Pain Inventory after 2 years of ERT Hoffmann et al. [67]
  1. eGFR estimated glomerular filtration rate, ERT enzyme replacement therapy, FD Fabry disease, FOS Fabry Outcome Survey, LVH left ventricular hypertrophy, LVMI left ventricular mass index