Table 1.
Patient demographics and baseline characteristics
| Overall (n = 307) | < 30 kg (n = 6) | < 45 kg (n = 31) | |
|---|---|---|---|
| Male, n (%) | 201 (65.5) | 5 (83.3) | 19 (61.3) |
| Mean weight, kg (95% CI), [N] | 54.7 (53.3–56.0), [254] | 21.8 (16.7–26.8), [6] | 36.8 (33.7–40.0), [31] |
| Mean age at initiation of ERT, years (95% CI), [N] | 39.1 (37.3–40.9), [303] | 7.3 (4.2–10.5), [6] | 31.6 (23.2–40.1), [31] |
| Previous ERT use, n (%) | |||
| No | 234 (76.2) | 5 (83.3) | 24 (77.4) |
| Yes | 71 (23.1) | 1 (16.7) | 7 (22.6) |
| NR | 2 (0.7) | 0 (0.0) | 0 (0.0) |
| Previous concomitant medication use, n (%) | |||
| No | 27 (8.8) | 0 (0.0) | 0 (0.0) |
| Yes | 280 (91.2) | 6 (100%) | 31 (100%) |
| Clinical symptoms at baseline, n (%) | |||
| Pain in extremities | 174 (56.7) | 4 (66.7) | 19 (61.3) |
| Angiokeratoma | 95 (30.9) | 0 (0.0) | 6 (19.4) |
| Dyshidrosis | 137 (44.6) | 4 (66.7) | 17 (54.8) |
| Dysthermesthesia | 68 (22.1) | 1 (16.7) | 4 (12.9) |
| Corneal opacity | 90 (29.3) | 2 (33.3) | 13 (41.9) |
| Abdominal pain | 45 (14.7) | 1 (16.7) | 3 (9.7) |
| Diarrhea | 54 (17.6) | 1 (16.7) | 5 (16.1) |
| Mean blood GL-3 level, μg/mL (95% CI), [n] | 8.5 (7.7 − 9.4), [152] | 10.7 (− 45.2 − 66.6), [2] | 9.2 (6.5 − 11.9), [16] |
| Anti-agalsidase beta antibody status, n (%) | |||
| Positive at any point during the study | 167 (54.4) | 3 (50.0) | 17 (54.8) |
| Negative throughout the entire study period | 140 (45.6) | 3 (50.0) | 14 (45.2) |
ERT = enzyme replacement therapy; GL-3 = globotriaosylceramide