Table 1 Participant demographics and disease characteristics (all enrolled participants)
Demographic data | All individuals (N = 36) | |
|---|---|---|
Age, years | Mean (SD) | 9.9 (4.6) |
Median | 9.5 | |
Range | 2.0–18.0 | |
Sex, n (%) | Male | 15 (41.7%) |
Female | 21 (58.3%) | |
Ethnicity, n (%) | Caucasian | 33 (91.7%) |
Asian | 1 (2.8%) | |
Other | 2 (5.6%) | |
Height, cm | Mean (SD) | 134.1 (24.9) |
Median | 136.0 | |
Range | 82.0–176.0 | |
Height-for-age Z score | Mean (SD) | − 0.14 (1.36) |
Median | 0.06 | |
Range | (− 3.38–2.67) | |
Weight, kg | Mean (SD) | 34.63 (15.57) |
Median | 32.35 | |
Range | 10.00–71.70 | |
Body mass index, kg/m2 | Mean (SD) | 18.0 (2.6) |
Median | 18.0 | |
Range | 14.1–23.1 | |
Age at first NPC symptom, years | Mean (SD) | 3.8 (3.4) |
Median | 3.0 | |
Range | 0.0–14.0 | |
Phenotype characterization, n (%) | Early–infantile onset (< 2 years old) | 6 (16.7%) |
Late–infantile onset (2– < 6 years old) | 19 (52.8%) | |
Juvenile onset (6– < 15 years old) | 11 (30.6%) | |
Time since first NPC symptom, years | Mean (SD) | 6.7 (3.7) |
Median | 6.4 | |
Range | 1.7–15.8 | |
Time since NPC diagnosis, years | Mean (SD) | 5.3 (4.0) |
Median | 3.5 | |
Range | 0.2–15.8 | |
Currently treated with miglustat, n (%) | Yes | 30 (83.3%) |
No | 6 (16.7%) | |
Historic NPC-cdb score | Mean (SD) | 40 (21) |
Median | 38 | |
Range | 4–91 |