Table 1 Baseline characteristics and treatment history of patients with NP-C
Characteristics | Diagnosis | |||
|---|---|---|---|---|
Infantile | Juvenile | Adult | Total | |
(n = 18) | (n = 22) | (n = 23) | (n = 63) | |
Gender, n (%) | ||||
Male | 12 (66.7) | 14 (63.6) | 11 (47.8) | 37 (58.7) |
Female | 6 (33.3) | 8 (36.4) | 12 (52.2) | 26 (41.3) |
Family history, n (%) | ||||
Parent or sibling with NP-C | 2 (11.1) | 4 (18.2) | 9 (39.1) | 15 (23.8) |
Cousin with NP-C | 1 (5.6) | 1 (4.5) | 1 (4.3) | 3 (4.8) |
Other relatives with NP-C | 0 (0.0) | 1 (4.5) | 0 (0.0) | 1 (1.6) |
Presence of NPC1 mutation, n (%) | 18 (100)* | 21 (95.5) | 23 (100.0) | 62 (98.4) |
Presence of NPC2 mutation, n (%) | 1 (5.6)* | 1 (4.5) | 0 (0.0) | 2 (3.2) |
Age at diagnosis, mean (SD), years | 2.15 (1.10) | 10.97 (3.82) | 25.98 (8.15) | 13.93 (11.23) |
Treated with miglustat, n (%) | 16 (88.9) | 18 (81.8) | 18 (78.3) | 52 (82.5) |
Age at miglustat treatment initiation, mean (SD), years | 3.62 (4.04) | 12.95 (5.28) | 24.77 (5.77) | 14.17 (10.01) |
First neurologic symptom age, yearsa | ||||
n | 16 | 22 | 23 | 61 |
Mean (SD) | 2.28 (4.30) | 9.46 (4.43) | 17.81 (8.69) | 10.72 (8.83) |
Time between onset of first neurologic symptom and miglustat treatment, yearsa | ||||
n | 14 | 18 | 18 | 50 |
Mean (SD) | 1.26 (1.18) | 3.35 (4.47) | 8.76 (7.44) | 4.71 (6.05) |
Time from diagnosis to miglustat treatment initiation, years | ||||
n | 16 | 18 | 18 | 52 |
Mean (SD) | 1.64 (3.96) | 2.14 (3.20) | 1.91 (2.51) | 1.91 (3.19) |
Miglustat total treatment duration, years | ||||
n | 16 | 18 | 18 | 52 |
Mean (SD) | 2.63 (1.96) | 3.47 (3.25) | 4.20 (2.83) | 3.46 (2.78) |
Miglustat treatment, n (%) | ||||
≥ 1 year | 12 (66.7) | 13 (59.1) | 14 (60.9) | 39 (61.9) |
< 1 year | 4 (22.2) | 5 (22.7) | 4 (17.4) | 13 (20.6) |
Non-treated | 2 (11.1) | 4 (18.2) | 5 (21.7) | 11 (17.5) |
Median age at which 50% of the population showed symptoms, median, years | ||||
Neurologic | 1.3 | 9.8 | 16.3 | |
Visceral | 0.7 | 13.8 | 27.0 | |
Psychiatric | 18.0 | 10.3 | 19.8 | |