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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
20Ŧ 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
37Ŧ 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
  1. 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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172