Table 1 Patient Characteristics
From: Effects of immunomodulation in classic infantile Pompe patients with high antibody titers
Patient 1 | Patient 2a | Patient 3 | |
|---|---|---|---|
Baseline and initial response | |||
Age at start (in months) | 2.4 | 5.8 | 1.9 |
Mutations | c.2481 + 102_2646 + 31del538 | c.del525T | c.del525T |
c.2481 + 102_2646 + 31del538 | c.del525T | c.del525T | |
CRIM status | Positive | Negative | Negative |
Ventilatory support | No | No | No |
LVMI at start in g/m2 (z-score) | 237 (22.5) | 265 (26.1) | 200 (17.8) |
Time to LVMI normalization (z-score) | 9 months (1.75) | 6 months (1.43) | 9 months (0.1) |
Age pull to stand (in months) | 11.6 | 14.8 | 9.2 |
Age walking (in months) | 15 | 21.3 | 11.7 |
NGT at start | No | Yes | Yes |
Age at which NGT ended (in months) | N.A | 21 | 9 |
Total number of IARs (total severe IARs) | 70 (6) | 22 (5) | 16 (0) |
Age at last IAR (in years) | 4.0 | 3.5 | 2.1 |
At start of secondary immunomodulation | |||
Age in years | 6.6 | 3.5 | 2.3 |
Ventilatory support | No | No | No |
LVMI in g/m2 (z-score) | 70.6 (0.4) | 63.2 (0.5) | 83.9 (3.1) |
Best motor function | Sitting | Walking | Walking |
Antibody titer | 1:156,250 | 1:156,250 | 1:781,250 |
Enzyme activity in cell lysates | 50% | 60% | 100% |
At study end | |||
Age in years | 9.1 | 5.6 | 3.8 |
Ventilatory support | No | No | No |
LVMI in g/m2 (z-score) | 82.5 (1.3) | 65 (0.7) | 55 (−0.5) |
Best motor function | Sitting | Walking | Walking |
NGT/PEG (age in years) | Yes (7.0) | No | No |
Last antibody titer (time since last RTX in years) | 1:31,250 (0.5) | 1:31,250 (2) | 1:1561,250 (1.5) |
Enzyme activity in cell lysates | 100% | 100% | 100% |
B-cell normalization/time since last RTX in months | Yes/14 No/5c | Yes/6 | Yes/3 |
Last B-cell levelb | 0 | 0.85*109/L | 0.48*109/L |
IARs since start of immunomodulation | No | No | No |