Table 1. Synopsis of studies assessing outcome in IOPD.
| Region | N | Start of ERT (months) | Deceased | Ventilator-dependent | Walking | Reference |
|---|---|---|---|---|---|---|
| UK | 20 | 6.5 (0.5–32) | 7 (35%) | 6 (30%) | 4 (20%) | (13) |
| US* | 17 | ≤6 | 6 (35%) | 0 (0%) | 7 (41%) | (14) |
| NL | 11 | 3.1 (0.1–8.3) | 3 (27%) | 2 (18%) | 6 (55%) | (15) |
| T** | 10 | <1 | 0 (0%) | 0 (0%) | 10 (100%) | (16) |
| D | 23 | 2.8 (0.1–8.1) | 10 (43%) | 4 (17%) | 9 (39%) | (17) |
| UK | 33 | 0.5 (0.1–32) | 13 (40%) | 8 (24%) | 10 (30%) | (18) |
| I | 28 | 4 (0.2–11) | 9 (32%) | 13 (46%) | 7 (25%) | (19) |
ERT, enzyme replacement therapy; IOPD, infantile-onset Pompe disease; UK, United Kingdom; US, United States; NL, The Netherlands; T, Taiwan; D, Germany; I, Italy; *, age ≥5 years as inclusion criteria; all 6 eligible CRIM-negative patients had died before this age. **, use of newborn screening.