Demographics and baseline patient characteristics
| Parameter . | All eliglustat-treated patients (N = 157) . | Extension patients with 4-y data (N = 46) . |
|---|---|---|
| Sex, n (%) | ||
| Male | 72 (46) | 20 (44) |
| Female | 85 (54) | 26 (57) |
| Age at start of eliglustat, mean ± SD, y* | 38.0 ± 14.0 | 34.0 ± 14.4 |
| Age at first symptom, mean ± SD, y | 13.9 ± 12.8 | 10.1 ± 8.6 |
| Age at diagnosis, mean ± SD, y | 18.8 ± 13.9 | 14.8 ± 11.9 |
| Gaucher disease genotype, n (%) | ||
| L444P/other | 2 (1.3) | 0 |
| N370S/L444P | 56 (35.7) | 21 (45.7) |
| N370S/N370S | 35 (22.3) | 6 (13.0) |
| N370S/other | 47 (29.9) | 17 (37.0) |
| Other/other | 17 (10.8) | 2 (4.3) |
| Splenectomy performed, n (%) | ||
| Partial | 2 (1) | 2 (4) |
| Total | 37 (24) | 13 (28) |
| Years on enzyme therapy before eliglustat, mean ± SD | 10.5 ± 4.1 | 9.4 ± 4.5 |
| CYPD2D6 metabolizer status, n (%) | ||
| Poor | 6 (3.8) | 3 (6.5) |
| Intermediate | 21 (13.4) | 3 (6.5) |
| Extensive | 122 (77.7) | 37 (80.4) |
| Ultrarapid | 5 (3.2) | 3 (6.5) |
| Indeterminate | 3 (1.9) | 0 |
| Parameter . | All eliglustat-treated patients (N = 157) . | Extension patients with 4-y data (N = 46) . |
|---|---|---|
| Sex, n (%) | ||
| Male | 72 (46) | 20 (44) |
| Female | 85 (54) | 26 (57) |
| Age at start of eliglustat, mean ± SD, y* | 38.0 ± 14.0 | 34.0 ± 14.4 |
| Age at first symptom, mean ± SD, y | 13.9 ± 12.8 | 10.1 ± 8.6 |
| Age at diagnosis, mean ± SD, y | 18.8 ± 13.9 | 14.8 ± 11.9 |
| Gaucher disease genotype, n (%) | ||
| L444P/other | 2 (1.3) | 0 |
| N370S/L444P | 56 (35.7) | 21 (45.7) |
| N370S/N370S | 35 (22.3) | 6 (13.0) |
| N370S/other | 47 (29.9) | 17 (37.0) |
| Other/other | 17 (10.8) | 2 (4.3) |
| Splenectomy performed, n (%) | ||
| Partial | 2 (1) | 2 (4) |
| Total | 37 (24) | 13 (28) |
| Years on enzyme therapy before eliglustat, mean ± SD | 10.5 ± 4.1 | 9.4 ± 4.5 |
| CYPD2D6 metabolizer status, n (%) | ||
| Poor | 6 (3.8) | 3 (6.5) |
| Intermediate | 21 (13.4) | 3 (6.5) |
| Extensive | 122 (77.7) | 37 (80.4) |
| Ultrarapid | 5 (3.2) | 3 (6.5) |
| Indeterminate | 3 (1.9) | 0 |
SD, standard deviation.
Age on day 1 of first dose of eliglustat.