Table 2.
Effect of ERT in patients with FD
| Organ | Background/Setting/Measures | Effect on Cardiac Function | Reference |
|---|---|---|---|
| Heart | |||
| Agalsidase-α | Retrospective FOS analysis, 164 (71 males) patients treated for 5 yr, LVMI slopes were compared with untreated patients as 0.33 (95% CI, 0.13 to 0.53) g/m2.7 per year in males and 0.48 (95% CI, 0.30 to 0.66) g/m2.7 per year in females | Reduction of LVMI | 31 |
| Observational single-center study, 45 (21 males) patients treated for 10 yr, MWT decreased by −1.89 (95% CI, −2.58 to −1.19) mm (P<0.001) in males and by −0.48 (95% CI, −1.05 to 0.09) mm (P=0.10) in females | Reduction of MWT | 32 | |
| Retrospective FOS analysis, 52 patients treated up to 2 yr, in patients with MWT>11 mm at baseline MWT decreased (P<0.05) and in patients with LVM>50 g/m2.7 LVM also decreased (P<0.05) | Reduction of MWT and LVM | 42 | |
| Open-label multicenter study, 11 (ten males) pediatric patients treated for 6.5 yr, LVMI changed by −0.48 (95% CI, −1.33 to 0.38) g/m2.7 per year | Stabilization of LVMI | 47 | |
| Phase IIIB study, 15 female patients treated for 12 mo, LVMI changed after 27 wk by −23.0±5.78 g/m2 (P=0.003) and after 41 wk by −25.2±8.12 g/m2 (P=0.02) | Reduction of LVMI | 54 | |
| Randomized, double-blind, placebo-controlled study, 15 male patients treated for 6 mo, LVM changed by −11.5 g (treated) versus +21.8 g (placebo) (P=0.04) | Reduction of LVM | 55 | |
| Retrospective FOS analysis, 57 patients treated up to 5 yr, after 5 yr LVMI changed in patients with LVH at baseline (n=32) by −7.3±15.3 g/m2.7 (P=0.01) and without LVH (n=25) by +1.8±10.1 g/m2.7 (P>0.05) | Reduction of LVMI | 56 | |
| Single-center open-label study of 37 females treated for 4 yr, independently of LVMI at baseline, LVMI decreased over time (P<0.01) | Reduction of LVMI | 57 | |
| Agalsidase-β | Retrospective Fabry Registry analysis, 52 (50 males) patients treated for 10 yr, IVST changed in patients with LRI by +0.04 mm/yr (P=0.05) and in patients with HRI by +0.14 mm/yr (P=0.07) | Stabilization of IVST | 33 |
| Single-center open-label study, 16 (14 males) patients treated for 12 mo, end-diastolic thickness of the left ventricular posterior wall, myocardial mass, peak systolic strain rate, and end-systolic strain of the posterior wall changed by −2 mm, −21 g, +0.9 s−1, +11% (all P<0.05) | Reduction, stabilization of cardiac structures and improvement of cardiac function | 58 | |
| Single-center open-label study, nine (seven males) patients treated for 12 mo, IVST, RWT, and LVMI were significantly reduced (all at least P<0.05) after 12 mo | Reduction of IVST, RWT, and LVMI | 59 | |
| Single-center open-label study, 11 (eight males) patients treated for 45 mo, LVM changed by −35 g and left ventricular wall thickness changed by −2 mm (both P<0.001) | Reduction of LVM and LVWT | 60 | |
| Single-center open-label study, 32 (27 males) patients stratified by fibrosis treated for 3 yr, LVM and septum thickness changed in patients without fibrosis by −36 g and −1.5 mm (both P<0.02) | Reduction of LVM and septum thickness due to early treatment before fibrosis | 61 | |
| Single-center open-label study, 23 (13 males) patients treated for 14 mo, LVM, phosphocreatine, and ATP changed by −30 g (P=0.01), +2.7 mmol/kg (P=0.003), and +1.0 mmol/kg (P<0.05) | Reduction of LVM and amelioration of energetic depression | 62 | |
95% CI, 95% confidence interval; FOS, Fabry outcome survey; LRI, low renal impairment; HRI, high renal impairment; LVMI, left ventricular mass index; LVM, left ventricular mass; MWT, mean wall thickness; LVH, left ventricular hypertrophy; IVST, interventricular septum thickness; RWT, relative wall thickness; LVWT, left ventricular wall thickness.