Table 1 Patient characteristics
No.* | Value | ||
|---|---|---|---|
Sex, n (%) | 233 | ||
Female | 118 (50.6) | ||
Male | 115 (49.4) | ||
Age, years, median (range) [IQR] | |||
Diagnosis | 233 | 14.5 (0.5-67.5) [8.4;34.0] | |
Initiation of ERT | 233 | 34.3 (1.0-76.0) [20.6;48.0] | |
Patients <15 at diagnosis, n (%) | 233 | 87 (62.7) | |
Patients <15 at initiation of ERT, n (%) | 233 | 41 (17.6) | |
Type, n (%) | 233 | ||
1 | 226 (97.0) | ||
3 | 7 (3.0) | ||
Genotype, n (%) | 194 | ||
N370S/N370S | 26 (13.4) | ||
N370S/L444P | 31 (15.9) | ||
L444P/L444P | 4 (2.1) | ||
N370S/Other | 100 (51.5) | ||
L444P/Other | 10 (5.2) | ||
Other/Other | 23 (11.9) | ||
Initial test leading to GD diagnosis†, n (%)** | 153 | ||
Enzyme assay | 34 (22.2) | ||
GBA-gene sequencing | 1 (0.7) | ||
Bone-marrow aspiration | 79 (51.6) | ||
Bone-marrow biopsy | 13 (8.5) | ||
Bone biopsy | 5 (3.3) | ||
Liver biopsy | 3 (1.9) | ||
Spleen histology | 17 (11.1) | ||
Other | 1 (0.7) | ||
Splenectomy at initiation of ERT, n (%) | 233 | 61 (26.2) | |
Patients with bone events, n (%) | |||
At initiation of ERT | 233 | 65 (27.9) | |
On ERT | 233 | 33 (14.1) | |
Initial dose, n (%) | 213 | ||
< 90 IU/kg/month | 28 (13.1) | ||
90- 120 IU/kg/month | 174 (81.7) | ||
> 120 IU/kg/month | 11 (5.2) | ||