Table 1.
Demographicsa
| Group | Patient | Age at first symptoms | Age at baseline (y) | Duration (y) | Sex | APOE genotype | Severity at baseline | Severity at follow-up | Time between samplings (d) |
|---|---|---|---|---|---|---|---|---|---|
| Untreated at baseline, treated at follow-up | NPC5 | 1 y | 11.4 | 10.4 | M | E4/E4 | 25 | 26 | 196 |
| NPC19 | 2 y | 3.8 | 1.8 | F | E3/E3 | 3 | 7 | 268 | |
| NPC20 | 2 y | 3.8 | 1.8 | F | E2/E3 | 5 | 9 | 268 | |
| NPC17 | 3 w | 6.1 | 6.1 | M | E3/E3 | 7 | 15 | 456 | |
| NPC23 | 6 m | 7.7 | 7.2 | F | E3/E3 | 1 | 3 | 357 | |
| Sum | 2 y (3 w-2 y) |
6.1b (3.8–11.4) |
6.1b (1.8–10.4) |
2 M/3 F | 5b (1–25) |
9 (3–26) |
268 (196–456) |
||
| Treated at baseline and at follow-up | NPC16 | Neonate | 4.7 | 4.7 | M | E3/E3 | 2 | 3 | 366 |
| NPC2 | 6 m | 7.7 | 7.2 | M | E3/E3 | 5 | 5 | 196 | |
| NPC9 | 2 w | 8.3 | 8.3 | M | ND | 8 | 9 | 434 | |
| NPC11 | 3 m | 5.4 | 5.2 | M | E3/E4 | 8 | 9 | 349 | |
| NPC12 | Neonate | 4.7 | 4.7 | F | E3/E3 | 12 | 13 | 175 | |
| NPC3 | 8 m | 13.5 | 12.8 | F | E3/E3 | 33 | 35 | 196 | |
| Sum | 7 w (0–8 m) |
6.6c (4.7–13.5) |
6.2d (4.7–12.8) |
4 M/2 F | 8e (2–33) |
9f (3–35) |
273 (196–434) |
||
| Untreated at baseline and at follow-up | NPC6 | 1.5 y | 16.8 | 15.3 | M | ND | 18 | 25 | 189 |
| NPC15 | 39 y | 51.3 | 12.3 | F | E3/E3 | 24 | 24 | 183 | |
| NPC24 | 5 y | 21.5 | 16.5 | F | E3/E3 | 35 | 40 | 357 | |
| NPC13 | 8 y | 32.1 | 24.1 | M | E3/E3 | 39 | 43 | 644 | |
| NPC4 | Neonate | 5.5 | 5.5 | M | E3/E3 | 12 | 14 | 427 | |
| Sum | 5 y (0–39 y) |
21.5 (5.5–52.3) |
12.3 (5.5–24.1) |
3 M/2 F | 24 (12–39) |
25 (14–43) |
357 (183–644) |
aData for sum are median(range); bp = 0.047 vs. untreated; cp = 0.030 vs. untreated; dp = 0.052 vs. untreated;ep = 0.035 vs. untreated; fp = 0.028 vs. untreated