Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

Cox, Timothy M; Amato, Dominick; Hollak, Carla EM; Luzy, Cecile; Silkey, Mariabeth; Giorgino, Ruben; Steiner, Robert D

doi:10.1186/1750-1172-7-102

Orphanet Journal of Rare Diseases

Table 3 Individual patient data and primary and secondary efficacy parameter findings

From: Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

Pt. #	Gender	Genotype	Body wt. (kg)		Tx duration (days)	Liver (MN)		Liver volume (mL)		Spleen (MN)		Spleen volume (mL)		Hb (g/dL)		Platelets (x 10⁹/l)		Chito nmol/(mL*hr)
			BL	EOT		BL	EOT	BL	EOT	BL	EOT	BL	EOT	BL	EOT	BL	EOT	BL	EOT
1	M	N370S/unknown	102	–	71	0.55	–	1420	–	3.40	–	696	–	15.1	–	127	–	159	–
2^†,Ŧ	M	N370S/IVS 2 + 1	79.4	79.4	148	–	0.92	–	1833	–	5.52	–	876	15.4	15.6	93	95	781	1396
3^†	F	R496H/G202R	59.8	57.4	734	1.05	0.94	1564	1345	SPX	–	SPX	–	13.8	13.4	613	521	2915	1881
4^†	F	N370S/L444P	126	86.8	716	0.64	0.87	1999	1890	SPX	–	SPX	–	12.9	14.4	437	311	–	151
5^†,Ŧ	F	N370S/unknown	69.7	62.8	408	0.85	0.85	1474	1333	2.66	3.54	371	445	14.0	12.1	233	148	974	3456
6	F	N370S/L444P	86.3	–	75	0.73	–	1582	–	2.94	–	507	–	16.8	16.9	173	173	1165	–
7^†	M	N370S/L444P	85.0	79.5	663	0.73	0.80	1545	1593	2.19	2.68	373	425	15.5	15.6	162	127	4729	1808
8^†,Ŧ	F	N370S/EXG DEL G	48.0	46.0	245	1.49	1.54	1785	1774	SPX	–	SPX	–	12.9	12.3	161	195	2887	5196
9^†	M	N370S/L444P	91.0	85.0	732	0.98	0.89	2224	1891	9.90	10.4	1801	1761	14.3	14.0	100	98	1619	3139
10	M	N370S/N370S	71.0	–	50	–	–	–	–	–	–	–	–	15.3	–	139	–	–	–
11	M	N370S/N370S	70.5	69.7	729	0.98	0.92	1729	1600	–	3.12	–	435	14.0	12.7	167	100	–	2156
12^†,Ŧ	F	N370S/T134P	57.0	46.7	373	0.77	0.80	1100	935	SPX	–	SPX	–	13.9	11.6	271	127	–	862
13	M	N370S/N370S	76.3	–	3	0.94	–	1798	–	2.21	–	338	–	16.1	–	187	–	53	–
14^†,Ŧ	M	N370S/K198E	70.1	70.1	190	1.04	1.11	1827	1938	2.72	3.51	382	492	15.2	12.2	160	150	–	4978
15^†,Ŧ	M	N370S/84GG	83.6	75.3	515	1.49	1.20	3112	2258	4.66	3.77	779	568	13.3	12.4	199	149	–	20
16*^,†,Ŧ	M	N370S/S107L	78.5	72.3	405	0.83	0.91	1627	1637	SPX	–	SPX	–	13.4	11.6	283	188	420	3645
17	F	N370S/D409H	81.2	–	109	1.02	–	2062	–	4.30	–	699	–	13.4	–	106	–	839	–
18*^,†	F	N370S/L444P	59.2	57.4	741	1.33	1.19	1964	1715	2.91	3.11	344	357	13.5	12.1	177	99	1232	4113
19^†	M	N370S/84GG	74.7	69.6	743	0.78	0.72	1463	1254	SPX	–	SPX	–	17.0	13.1	225	155	1336	4200
20^Ŧ	F	N37O/NK	51.5	–	112	1.04	–	1341	–	3.11	–	320	–	16.8	16.8	183	152	591	695
21^†	F	N370S/N370S	73.5	69.0	729	0.66	0.67	1220	1148	1.44	1.29	211	179	13.8	13.3	160	153	80	41
22*^,†	F	N370S/crossover	62.5	58.2	755	1.00	1.16	1562	1687	3.57	5.11	447	595	16.4	15.4	167	111	2326	2969
23^†	F	N370S/unknown	82.5	68.5	718	0.93	1.00	1925	1706	5.03	6.40	830	877	16.6	16.1	104	91	389	4058
24^†	F	N370S/N370S	67.7	65.9	740	0.82	0.86	1391	1416	2.00	1.80	270	238	16.4	14.6	226	191	27	17
25*^,†	M	N370S/1327TT	72.0	72.0	754	1.22	1.22	2191	2204	4.51	6.23	650	897	15.0	14.8	152	79	2658	8348
26*^,†	F	N370S/REC NEIL	61.0	51.0	732	0.95	1.06	1444	1349	1.61	2.84	197	289	14.8	13.4	186	113	666	3500
27*^,†,Ŧ	F	N370S/L444P	55.9	56.8	478	1.12	1.25	1571	1770	4.01	5.08	449	577	13.6	10.8	148	99	1872	2897
28^†,Ŧ	M	N370S/1035INSG	93.7	87.7	545	1.02	1.15	2391	2530	1.43	1.94	268	340	11.3	11.1	151	155	5863	6772
29*^,†	M	ND	91.2	87.3	653	0.81	1.05	1847	2291	6.67	11.1	1217	1939	15.0	15.1	98	54	241	1703
30*^,†	M	ND	86.1	84.8	765	0.81	0.97	1745	2063	2.40	4.07	413	690	16.8	14.7	158	116	3398	7138
31^†	M	N370S/N370S	95.9	82.3	734	0.82	0.90	1964	1854	SPX	–	SPX	–	14.8	14.4	264	251	–	110
32^†,Ŧ	M	N370S/8499	71.2	79.8	239	0.92	0.75	1638	1496	2.18	2.18	311	348	14.9	14.1	186	128	391	590
33^†	F	N370S/R257X	124	109	738	1.05	0.88	3274	2400	SPX	–	SPX	–	17.8	13.9	229	219	44	1071
34*^,†	F	N370S/unidentified	113	109	725	0.63	0.64	1788	1733	1.74	2.96	394	642	13.6	14.6	223	135	1587	4118
35*^,†	F	N370S/unidentified	89.2	68.8	725	0.52	0.85	1152	1468	2.23	3.24	398	446	15.3	14.8	149	102	132	1002
36*^,†	M	N370S/unidentified	70.3	68.9	725	0.97	1.09	1704	1880	2.94	4.34	413	598	14.2	14.6	177	158		13834
37^Ŧ	M	N370S/unknown	76.0	–	140	0.75	–	1434	–	2.11	–	320	–	14.7	14.4	141	141	438	510
38*^,†	F	84GG/N370S	65.0	62.5	732	0.72	0.92	1162	1439	3.24	3.72	422	465	16.8	15.1	136	106	98	1271
39*^,†	M	N370S/84GG	88.0	81.0	730	0.88	1.11	1932	2248	SPX	–	SPX	–	17.1	14.8	254	174	1940	10636
40	M	L444P/NA	54.4	–	22	0.81	–	1095	–	2.18	–	238	–	16.2	–	134	–	–	–
41	M	N370S/N370S	76.7	–	15	0.80	–	1538	–	1.37	–	210	–	15.9	–	232	–	–	38
42^†,Ŧ	F	N370S/N370S	58.5	58.0	231	1.01	0.98	1471	1424	2.35	2.54	275	294	12.6	12.9	214	207	17	21

BL, baseline; Chito, chitotriosidase; EOT, end of treatment; Hb, hemoglobin; MN, multiples of normal; ND, not determined; SPX, splenectomy; Tx, treatment; WV, worst value. *Patients adjudicated as showing disease worsening; ^†patients within therapeutic goals at baseline who were assessed for maintenance of therapeutic goals; ^Ŧpatients in whom therapeutic goals were adjudicated based on worst value (end-of-treatment) analysis. Dashes represent patients in whom useable data values were not available or analyses (i.e. therapeutic goals) were not possible.

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ISSN: 1750-1172

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