Table 2.
Baseline (pre-treatment) characteristics of 133 treated patients with GD1 by investigative site
| Total | South Florida | Toronto | Atlanta | Los Angeles | Pittsburgh | |
|---|---|---|---|---|---|---|
| Patients: N | 133 | 61 | 25 | 15 | 24 | 8 |
| Patients with splenectomy: n (%) | 39 (29.3) | 17 (27.9) | 8 (32.0) | 5 (33.3) | 5 (20.8) | 4 (50.0) |
| Women: n (%) | 81 (61) | 36 (59) | 18 (72) | 10 (66.7) | 11 (45.8) | 6 (75) |
| Ethnicity: n (%) | ||||||
| Ashkenazi Jewish | 68 (51.1) | 45 (73.8) | 4 (16.0) | 3 (20.0) | 15 (62.5) | 1 (12.5) |
| Part Ashkenazi | 13 (9.8) | 7 (11.5) | 1 (4.0) | 1 (6.7) | 4 (16.7) | 0 |
| Non-Jewish | 44 (33.1) | 9 (14.8) | 19 (76.0) | 8 (53.3) | 2 (8.3) | 6 (75.0) |
| Unknown | 8 (6.0) | 0 | 1 (4.0) | 3 (20.0) | 3 (12.5) | 1 (12.5) |
| Age at diagnosis (y) | ||||||
| Mean (SD) | 29.7 (18.8) | 34.6 (21.2) | 17.0 (19.2) | 30.7 (14.1) | 32.0 (18.4) | 23.4 (19.1) |
| Age at first treatment (y) | ||||||
| Mean (SD) | 44.5 (18.8 | 52.2 (16.9) | 33.5 (19.3) | 37.3 (17.2) | 43.1 (16.3) | 38.5 (19.0) |
| Years on treatment | ||||||
| Mean (SD) | 13.3 (6.1) | 13.3 (6.0) | 12.0 (5.6) | 14.3 (6.4) | 12.8 (6.8) | 17.0 (4.6) |
| Current age (y) | ||||||
| Mean (SD) | 57.8 (18.4) | 65.5 (15.5) | 45.5 (18.9) | 51.6 (18.8) | 55.9 (16.5) | 55.5 (19.2) |
| Genotype: N (%) | ||||||
| N370S/N370S | 52 (39.1) | 35 (57.4) | 3 (12.0) | 5 (33.3) | 8 (33.3) | 1 (12.5) |
| N370S/L444P | 24 (18.1) | 8 (13.1) | 7 (28.0) | 5 (33.3) | 2 (8.3) | 2 (25.0) |
| N370S/84GG | 7 (5.3) | 4 (6.6) | 2 (8.0) | 0 | 1 (4.2) | 0 |
| N370S/IVS2+1 | 4 (3.0) | 3 (4.9) | 0 | 0 | 0 | 1 (12.5) |
| N370S/other | 31 (23.3) | 9 (14.8) | 10 (40.0) | 4 (26.7) | 7 (29.2) | 1 (12.5) |
| L444P/other | 3 (2.2) | 1 (1.6) | 1 (4.0) | 0 | 0 | 1 (12.5) |
| L444P/L444P | 1 (0.75) | 0 | 1 (4.0) | 0 | 0 | 0 |
| Other/other | 5 (3.8) | 1 (1.6) | 1 (4.0) | 1 (6.7) | 0 | 2 (25.0) |
| Unknown/missing | 6 (4.5) | 0 | 0 | 0 | 6 (25.0) | 0 |
| Baseline DS3 score* | ||||||
| Mean (SD) | 5.6 (2.6) | 5.6 (2.5) | 6.6 (2.9) | 4.4 (2.3) | 4.8 (2.4) | 7.2 (2.0) |
*Two-tailed t-test: Toronto v Atlanta: P=0.016; Toronto v California: P=0.020; Pittsburgh v Atlanta: P=0.008; Pittsburgh v California: P=0.016