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Table 1 Baseline characteristics of included GD1 patients

From: Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

Patient Gender Age start therapy [yr] GBA Mean dose ERT [U/kg/m] SRT [mg/day] CYP2D6 Genotype ERT before switch [yr] Stop SRT/SRT duration [yr] Anemia [g/dL] T0/TSwitch Platelets [a109/L] T0/TSwitch Sx Spleen [mL] T0/TSwitch Liver [mL] T0/TSwitch Bone complications FF [%] T0/TSwitch
Naive patients Eliglustat 1 M 59 N370S/L444P 200 IM na - 12.6 76 - 888 2037 - 37
2 M 42 N370S/L444P 100 IM na - - 96 - 1700 2679 - 38
3 M 43 N370S/L444P 200 EM na - - 117 - 797 2728 - 29
4 F 37 N370S/L444P 200 EM na - - 154 - 642 2031 - 7
ERT 5 M 47 N370S/L444P 45 - na na - 118 - 855 2269 - 18
6 M 45 N370S/P319L 60 - na na - 69 - 2115 3347 - 33
7 M 42 N370S/c.1265_1319del 60 - na na 13.5 78 - 508 1776 - 24
8 F 46 RecNci/D140H 60 - na na - 38 - 932 1733 - 44
Miglu. 9 F 44 N370S/L444P 500 - na - - 95 - 1412 2818 - 23
10 F 43 N370S/R131C 300 - na - 11 268 + na 2590 + 16
Switch patients Eliglu. 11 M 37 N370S/L444P 15/200 EM 18 - -/- 110/174 - 574/310 1830/1719 - 29/51
12 M 36 N370S/G202R 34/200 EM 20 AE/0.33 12.6/12.7 281/281 + na 2257/1327 + naa
Miglustat 13 M 43 N370S/L444P 15/300 - 12 - -/- 45/162 - 885412 2014/1615 - 40/56
14 M 47 N370S/L444P 34/300 - 13 - 11.3/- 53/100 - 3118/1855 3334/2193 - 24/52
15 F 32 N370S/D409H 15/300 - 9 TF/0.73 11.1/- 41/155 - 766/232 2485/1832 - 7/45
16 F 65 N370S/L444P 30/300 - 8 AE/0.23 11.9/- 76/192 - 1561/323 2730/1851 - 16/34
17 F 12 N370S/L444P 30/300 - 11 AE/0.41 11.9/- 90/143 - 933/409 1682/1725 - 18/38
18 F 30 N370S/EX9delG 30/300 - 7 TF/0.68 -/11.9 129/161 + na 3293/1604 - 23/33
19 F 23 N118S/N118S 30/200 - 2 TF/2.2 10.8/7.3 46/52 - 952/1557 2005/1878 - 4/4
  1. Of the patients switching from ERT to SRT baseline data are given before start of ERT (T0) and before start of SRT (Tswitch). Dosing represents the mean dose of ERT/SRT during first two years of treatment. Anemia is defined as M < 13.7, F < 12.1 g/dL. a due to severe bone complications fat fraction cannot reliably be measured. Abbreviations: M males, F females, IM intermediate metabolizer, EM extensive metabolizer, na not applicable, +: present, -: absent, ERT enzyme replacement therapy, SRT substrate reduction therapy, Sx splenectomy, AE adverse events, TF treatment failure, FF fat fraction