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

Table 1 Baseline characteristics of included GD1 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/T_Switch	Platelets [^a10⁹/L] T₀/T_Switch	Sx	Spleen [mL] T₀/T_Switch	Liver [mL] T₀/T_Switch	Bone complications	FF [%] T₀/T_Switch
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
	Miglu.	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
	Eliglu.	12 M 36	N370S/G202R	34/200	EM	20	AE/0.33	12.6/12.7	281/281	+	na	2257/1327	+	na^a
	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

Of the patients switching from ERT to SRT baseline data are given before start of ERT (T₀) and before start of SRT (T_switch). 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

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