Table 1.
General characteristics at baseline.
| Males (n = 69) | Females (n = 62) | Total (n = 131) (range) | |
|---|---|---|---|
| Age at baseline (years) | 37.49 ± 16.45 | 44.15 ± 17.47 | 37.31 (12–53) |
| Mean age at diagnosis (years) | 21.78 ± 15.54 | 26.77 ± 17.19 | 24.63 (1–65) |
| Mean age at the start of therapy (years) | 30.71 ± 17.17 | 31.15 ± 18.43 | 31.0 (1–47) |
| Accumulated years on therapy | 6.91 ± 6.30 | 7.81 ± 6.45 | 7.39 (2–18) |
| Median S-MRI at baseline | 9.10 ± 6.36 | 7.71 ± 4.65 | 8.4 (0-20) |
| Spleen removal n (%) | 20 (28.9) | 11 (17.4) | 31 (23.8) |
| GBA1(NM_000157.4) GD# n (%) | 131 | ||
| [c.1226A>G]+[c.1226A>G] | 4 (5.8) | 9 (14.5) | 13 (10.0) |
| [c.1226A>G]+[c.1448T>C] | 22 (31.9)b | 22 (35.5)b | 44 (33.6) |
| [c.1226A>G]+[other] | 31 (44.9)b | 26 (41.9)b | 57 (43.5) |
| [other]+[other] | 12 (17.4) | 5 (8.0) | 17 (12.9) |
| BMD at baseline, n (%) | 119 | ||
| normal | 30 (52.6) | 36 (58.0) | 66 (55.5) |
| osteopenia | 15 (26.3) | 10 (16.1) | 25 (21.0) |
| osteoporosis | 12 (21.0) | 16 (25.8) | 28 (23.5) |
| Patients without therapy, n (%) | 6 (8.7) | 11(17.7) | 17 (13.0) |
| Patients under therapy* | 63 (91.3) | 51 (82.2) | 114 (87.0) |
#c.1226A>G (N370S), c.1448T>C (L444P).
Mean ± SD; S-MRI, Spanish MRI score; BMD, bone mineral density.
*Number of patients exposed to any therapy at any time during follow-up (ERT: 210; miglustat: 49; eliglustat: 23).