Table 1.
Baseline characteristics of patients enrolled in GOS as of February 25, 2017 (N = 1209)
|
UK (n = 119) |
Israel (n = 536) |
US (n = 380) |
ROWa
(n = 174) |
Overall patients (N = 1209) |
|
|---|---|---|---|---|---|
| Sex | |||||
| Male | 53 (44.5) | 247 (46.1) | 165 (43.4) | 68 (39.1) | 533 (44.1) |
| Female | 66 (55.5) | 289 (53.9) | 215 (56.6) | 106 (60.9) | 676 (55.9) |
| Ethnicity | |||||
| Ashkenazi Jewish | 3 (2.5) | 498 (92.9) | 172 (45.3) | 2 (1.1) | 675 (55.8) |
| Other | 52 (43.7) | 37 (6.9) | 190 (50.0) | 116 (66.7) | 395 (32.7) |
| Missing information | 64 (53.8) | 1 (0.2) | 18 (4.7) | 56 (32.2) | 139 (11.5) |
| Median (IQR) age at GOS entry, years |
50.7 (35.5–60.9) |
39.3 (27.8–54.5) |
40.6 (23.8–59.0) |
36.3 (24.1–48.9) |
40.4 (26.5–56.8) |
| Type of GD | |||||
| Type 1 | 106 (89.1) | 518 (96.6) | 351 (92.4) | 131 (75.3) | 1106 (91.5) |
| Type 2 | 0 | 0 | 4 (1.1) | 0 | 4 (0.3) |
| Type 3 | 10 (8.4) | 5 (0.9) | 17 (4.5) | 5 (2.9) | 37 (3.1) |
| Missing information | 3 (2.5) | 13 (2.4) | 8 (2.1) | 38 (21.8) | 62 (5.1) |
| Diagnosis confirmationb | |||||
| Biochemical analysis (enzyme assay) | 25 (23.1) | 196 (28.7) | 137 (29.7) | 111 (63.8) | 469 (32.0) |
| GBA1 genotype testing | 73 (67.6) | 444 (65.1) | 267 (57.8) | 81 (46.6) | 865 (59.0) |
| Family history of GD | |||||
| Yes | 21 (17.6) | 212 (39.6) | 118 (31.1) | 52 (29.9) | 403 (33.3) |
| No | 45 (37.8) | 305 (56.9) | 216 (56.8) | 73 (42.0) | 639 (52.9) |
| Missing information | 53 (44.5) | 19 (3.5) | 46 (12.1) | 49 (28.2) | 167 (13.8) |
| Treatment status | |||||
| Treated | 111 (93.3) | 341 (63.6) | 314 (82.6) | 121 (69.5) | 887 (73.4) |
| Untreated | 4 (3.4) | 152 (28.4) | 13 (3.4) | 5 (2.9) | 174 (14.4) |
| Missing information | 4 (3.4) | 43 (8.0) | 53 (13.9) | 48 (27.6) | 148 (12.2) |
| Splenectomy status | |||||
| Intact spleen | 76 (63.9) | 452 (84.3) | 305 (80.3) | 138 (79.3) | 971 (80.3) |
| Total splenectomy | 33 (27.7) | 66 (12.3) | 39 (10.3) | 23 (13.2) | 161 (13.3) |
| Partial splenectomy | 1 (0.8) | 11 (2.1) | 8 (2.1) | 1 (0.6) | 21 (1.7) |
| Not specified/other | 9 (7.6) | 7 (1.3) | 28 (7.4) | 12 (6.9) | 56 (4.6) |
Abbreviations: GD, Gaucher disease; GOS, Gaucher Outcome Survey; IQR, interquartile range; ROW, rest of world.
Values are n (%) unless otherwise stated.
a
Argentina, Brazil, France, Italy, Paraguay, Poland, Spain, and Russia.
b
Excluding patients with prenatal diagnosis. Not mutually exclusive categories. Data available for n = 82 (UK), n = 473 (Israel), n = 320 (US), n = 133 (ROW), and n = 1008 (overall) patients.