Table 1 Characteristics of the study population of alglucosidase alfa-treated patients with IOPD from the Pompe Registry
Characteristics | All patients |
|---|---|
Total patients, (n) | 332 |
Male, n (%) | 160 (48.2) |
Female, n (%) | 172 (51.8) |
Region (n) | 332 |
EMEA, n (%) | 88 (26.5) |
JAPAC, n (%) | 92 (27.7) |
LATAM, n (%) | 6 (1.8) |
NA, n (%) | 146 (44.0) |
Age at Pompe diagnosis (monthsa) (n) | 329 |
Mean (SD) | 3.1 (2.77) |
Median (25th, 75th percentiles) | 2.7 (0.4, 5.0) |
Min, max | 0.0, 11.2 |
Diagnosed by newborn screening, n (%) | 51 (15.4) |
Age at first treatment, months (n) | 332 |
Mean (SD) | 3.7 (2.81) |
Median (25th, 75th percentiles) | 3.6 (1.1, 5.8) |
Min, Max | 0.1, 11.6 |
CRIM status (n) | 332 |
Positive, n (%) | 213 (64.2) |
Negative, n (%) | 70 (21.1) |
Unknown, n (%) | 49 (14.8) |
Ever received ITI, n (%) | 65 (19.6) |
CRIM and ITI status (n) | 332 |
CRIM-positive + received ITI, n (%) | 32 (9.6) |
CRIM-positive + no ITI, n (%) | 181 (54.5) |
CRIM-negative + received ITI, n (%) | 29 (8.7) |
CRIM-negative + no ITI, n (%) | 41 (12.3) |
Unknown CRIM status, n (%) | 49 (14.8) |
Patients with respiratory support data, (n) | 282 |
Baseline respiratory support status (n) | 282 |
None, n (%) | 238 (84.4) |
Non-invasive ventilation only, n (%) | 32 (11.3) |
Non-invasive and invasive ventilation, n (%) | 8 (2.8) |
Invasive ventilation only, n (%) | 4 (1.4) |
Ever use of respiratory support (baseline through follow-up), n (%) | 238 (84.4) |
None, n (%) | 153 (54.3) |
Non-invasive ventilation only, n (%) | 66 (23.4) |
Non-invasive and invasive ventilation, n (%) | 27 (9.6) |
Invasive ventilation only, n (%) | 36 (12.8) |
Deceased, n (%) | 88 (26.5) |
Age at death, months (n) | 88 |
Mean (SD) | 38.6 (39.49) |
Median (25th, 75th percentiles) | 23.5 (14.5, 44.5) |
Min, max | 5.1, 187.8 |
Dose related information | |
Dose category at baselineb (n) | 332 |
Very low dose, n (%) | 2 (0.6) |
Label dose (20 mg/kg EOW), n (%) | 270 (81.3) |
40 mg/kg EOW, n (%) | 12 (3.6) |
20 mg/kg/week, n (%) | 38 (11.4) |
40 mg/kg/week, n (%) | 10 (3.0) |
Highest dose category over timeb (n) | 332 |
Very low dose, n (%) | 0 |
Label dose, n (%) | 160 (48.2) |
40 mg/kg EOW, n (%) | 39 (11.7) |
20 mg/kg/week, n (%) | 68 (20.5) |
40 mg/kg/week, n (%) | 65 (19.6) |