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Table 1 Participant demographics and disease characteristics (all enrolled participants)

From: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

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
  1. NPC: Niemann–Pick disease type C; NPC-cdb: NPC clinical database; SD: standard deviation