Table 2 Clinical findings and laboratory values before and after asfotase alfa (AA treatment)
Case | Height [cm] (SD score) | Improvement in clinical findings | ALP [IU/L] | PLP [nmol/L] | PL [nmol/L] | PLP/PL (reference) | PEA/Cr (µmol/g Cr) | 6MWT [meter (% of normal)] | Bone density [g/cm2] (SD score) | Adverse effects |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 104 (− 0.8 SD)/117 (− 0.5 SD) | Pain alleviation Growth in height 6MWT improvement Improvement of X-ray finding | 197/12977 | 316.1/22.9 (16.2–57.4) | 13.1/22.2 (8.8–28.0) | 24.1/1(1.6–3.3) | 0.14/0.11 (0.08–1.08) | 350 (70%)/400 (75%) | 0.463 (N.R.)/0.522 (N.R.) | + |
2 | 125 (− 2.0 SD)/136 (− 2.0 SD) | Pain alleviation Improvement of activity intensity 6MWT improvement | 400/32956 | 164.4/3.2 (14.5–57.3) | 49.1/8.9 (7.4–17.7) | 3.4/0.4 (1.2–2.5) | 0.02/0.08 (0.08–1.08) | 380 (60%)/433 (68%) | 0.554 (− 2.8)/0.578 (− 2.7) | + |
3 | 74 (− 2.0 SD)/87 (− 1.8 SD) | Improvement of premature teeth loss Growth in height Improvement of X-ray finding | 79/24700 | 2293/137.1 (16.2–57.4) | 39/96 (8.8–28.0) | 58.7/1.4 (1.6–3.3) | 0.5/0.18 (0.08–1.08) | − | 0.266 (N.R.)/− | + |
4 | 143 (− 0.3 SD)/146 (− 0.5 SD) | Pain alleviation | 421/10274 | 100.8/− (14.5–57.3) | 19.5/− (7.4–17.7) | 5.2/− (1.9–5.3) | 0.019/− (0.08–1.08) | 330 (50%)/− | 0.630 (− 2.0)/0.732 (− 1.2) | + |
5 | 127 (− 1.9 SD)/142 (− 1.4 SD) | Pain alleviation Growth in height | 359/22743 | 108.2/21.9 (14.5–57.3) | 17.5/43.5 (7.4–17.7) | 6.2/0.5 (1.9–5.3) | 0.03/0.03 (0.08–1.08) | 505 (80%)/523 (81%)- | 0.636 (− 1.4)/0.758(− 0.8) | + |
6 | 155 (− 0.7 SD)/155 (− 0.7 SD) | Alleviation of pain and fatigue 6MWT improvement | 135/24675 | −/3.0 (14.5–57.3) | −/4.1 (7.4–17.7) | −/0.7 (1.9–5.3) | 0.08/− (0.08–1.08) | 356 (54%)/410 (65%) | 0.873 (− 1.8)/0.872 (− 1.9) | + |
7 | 97 (− 1.2 SD)/103 (− 1.3 SD) | Cessation of premature teeth loss Improvement of X ray finding | 113/4051 | 1938/152 (16.2–57.4) | 33/72.6 (8.8–28.0) | 58.7/2.1 (1.6–3.3) | 0.16/0.09 (0.08–1.08) | − | 0.362 (N.R.)/0.330 (N.R.) | + |
8 | 155 (− 2.5 SD)/157 (− 2.4 SD) | 6MWT improvement Disappearance of kidney calcification | 103/44368 | −/37.1 (N.R.) | −/185.5 (N.R.) | − /0.2 (N.R.) | 0.05/0.015 (0.08–1.08) | 463 (67%)/560 (81%) | 0.685 (− 3.8)/0.684 (− 4.0) | + |
9 | 103 (− 2.4 SD)/119 (− 2.3 SD)a | Alleviation of fatigue Growth in height | 157/25634 | −/15.7 (16.2–57.4) | −/34.3 (8.8–28.0) | −/0.5 (1.9–5.3) | 0.12/0.09 (0.08–1.08) | 300 (57%)/− | 0.478 (N.R.)/0.626 (− 1.5) | + |
10 | 35 (− 6.5 SD)/73 (− 4.8 SD) | Respiratory condition improvement Growth in height | 8/17720 | −/27 (N.R.) | −/37.6 (N.R.) | −/0.7 (N.R.) | −/0.29 (0.08–1.08) | − | −/0.249 (N.R.) | + |