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Table 1 Demographics and disease characteristics of all patients receiving continuous miglustat therapy for at least 12 months in the Registry by neurological onset category

From: Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

  Patients continuously treated with miglustat (N = 92) Patients with age at neurological onset data (n = 84)
EI (<2 years) LI (2 – <6 years) JUV (6 – <15 years) AA (≥15 years)
Male: female, n (%) 47 (51.1): 45 (48.9) 5 (55.6): 4 (44.4) 12 (44.4): 15 (55.6) 14 (46.7): 16 (53.3) 10 (55.6): 8 (44.4)
Age at onset of neurological manifestations
n 84* 9 27 30 18
Mean (SD), years 9.8 (8.6) 0.9 (0.7) 4.2 (1.3) 9.8 (2.7) 22.7 (8.8)
Median (range), years 6.9 (<1–44.6) 1.0 (<1 – 2.0) 4.5 (2.0 – 5.9) 9.2 (6.1 – 14.6) 18.7 (15.5 – 44.6)
Age at diagnosis
n 87 9 27 28# 17
Mean (SD), years 13.7 (10.9) 1.9 (1.9) 7.8 (7.0) 16.6 (7.7) 26.7 (9.9)
Median (range), years 12.0 (0.1–44.7) 1.4 (0.1 – 5.9) 5.2 (0.1 – 28.2)** 13.7 (7.7 – 40.2) 22.1 (14.4 – 44.7)
Age at enrolment
n 92 9 27 30 18
Mean (SD), years 18.9 (11.3) 4.7 (2.3) 12.5 (7.2) 20.7 (8.3) 31.2 (9.2)
Median (range), years 18.8 (0.7–48.3) 4.1 (2.2–8.6) 11.1 (3.6–29.4) 20.7 (9.2–41.5) 29.0 (18.7–48.3)
Composite disability score at enrolment
n 87†† 9 26α 29α 18
Mean (SD) 0.37 (0.23) 0.43 (0.33) 0.32 (0.24) 0.45 (0.22) 0.35 (0.17)
Median (range) 0.35 (0–1.00) 0.52 (0 – 1.00) 0.28 (0 – 1.00) 0.44 (0 – 0.88) 0.29 (0.06 – 0.81)
Composite disability score at last follow up
n 90β 9 27 30 17
Mean (SD) 0.44 (0.27) 0.59 (0.36) 0.46 (0.29) 0.49 (0.24) 0.31 (0.22)
Median (range) 0.36 (0–1.00) 0.58 (0.06–1.00) 0.38 (0.06–1.00) 0.51 (0.00–0.94) 0.29 (0.00–0.88)
  1. *Eight patients had no age at neurological onset data (two with no neurological manifestations at enrolment and six with unknown neurological status); five patients had no age at diagnosis data, including three for whom age at neurological onset was not available; #two patients had no age at diagnosis data; one patient had no age at diagnosis data; **two patients were diagnosed at age >20 years (one had extended daytime sleep periods and clumsiness and the other had coordination disturbances reported at time of first neurological symptoms). ††five patients had insufficient data, including two for whom age at neurological onset was not available. αone patient had insufficient data on composite disability score at enrolment; βtwo patients had insufficient disability score data at follow up. Note: patient age at diagnosis is calculated based on date of the first positive filipin staining or gene mutation analysis result. EI, early-infantile onset; LI, late-infantile onset; JUV; juvenile onset; AA, adolescent/adult onset