Table 1.
Patient characteristics related to infusion-associated reactions (IARs)
| Patient | Gender | Age at start of ERT in months | Age at study end in months (years) | Mutation I | Mutation II | Total no. of IARs possibly related to ERT (no. severe) | ERT duration at first IAR in months (in years) | ERT duration at last IAR in months (in years) |
|---|---|---|---|---|---|---|---|---|
| 20 mg/kg eow | ||||||||
| 1 | M | 0.1 | 33 (2.7)# | c.1460 T > C | c.1460 T > C | 18 (1) | 2.9 (0.2) | 29.5 (2.5) |
| 2 | F | 0.5 | 113 (9.4) | c.2481 + 102_2646 + 31del | c.2481 + 102_2646 + 31del | None | NA | NA |
| 3 | M | 1.2 | 66 (5.5) | c.1933G > T | c.525delT | 27 (0) | 3.2 (0.3) | 19.9 (1.7) |
| 4 | M | 2.2 | 20 (1.7) | c.2481 + 102_2646 + 31del | c.525delT | 3 (1) | 8.1 (0.7) | 17.3 (1.4) |
| Total | 48 (2) | |||||||
| 40 mg/kg/week | ||||||||
| 5 | F | 0.3 | 42 (3.5) | c.525delT | c.1933G > A | 2 (0) | 1.4 (0.1) | 9.4 (0.8) |
| 6 | F | 2.4 | 67 (5.6) | c.2481 + 102_2646 + 31del | c.2481 + 102_2646 + 31del | 70 (6) | 0.7 (0.1) | 37.6 (3.1) |
| 7 | M | 3.8 | 39 (3.3) | c.2481 + 102_2646 + 31del | c.525delT | 10 (0) | 0.9 (0.1) | 10.3 (0.9) |
| 8 | F | 4.6 | 41 (3.4) | c.378_379del | c.2104C > T | 5 (0) | 9.7 (0.8) | 12.2 (1.0) |
| Total | 87 (6) | |||||||
M male; F female; eow every other week; IAR infusion-associated reaction; ERT enzyme-replacement therapy, NA not applicable
aPatient developed respiratory insufficiency