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Table 1 Summary of studies/case series in paediatric patients

From: Miglustat in Niemann-Pick disease type C patients: a review

Study / ref Design Pts / controls (N) Mean (range) pt agea Biomarkers and surrogate biomarkers Median (range) treatment duration Reported treatment effects
Patterson et al. (2010) [41] 12-mo prospective multicentre Phase II RCT, 12-mo extension and continued extension LI, JUV pts.
(N = 12)
7 (4–11) yrs • HSEM-α and HSEM-β
• Swallowing
2.9 (2–4) yrs • Stabilised HSEM, swallowing, SAI
• Stabilisation in 80% pts. at 24 mo
Pineda et al. (2010) [45] Paediatric multicentre case series with up to 52-mo follow up EI, LI, JUV pts.
(N = 16)
NR (1–15) yrs • Disability scale
• Cog. function (DDST, WISCR)
• Cranial imaging (PET)
• Biomarkers (ChT, CCL18)
NR (0.5–4) yrs • Stabilised disability scores
• Stable cerebral hypometabolism
• Generally stable ChT and CCL18
• Greatest benefits in older pts.
Héron et al. (2012) [44] Paediatric prospective open-label multicentre observational study EI, LI, JUV pts.
(N = 20)
3 (< 1–7) yrs • Disability scale
EI: 1.3 (NR) yrs
LI: 1.0 (NR) yrs
JUV: 1.0 (NR) yrs
• Neurological improvement/stabilisation more frequent in LI and JUV vs. EI pts
Fecarotta et al. (2011) [51] Prospective open-label single-centre observational study EI and JUV pts.
(N = 4)
NR (< 1–11) yrs • VFS
• Disability scale
NR (3.0–4.0) yrs • Improved swallowing function
• Decreased aspiration
Karimzadeh et al. (2013) [47] Paediatric multicentre case series with up to 26-mo follow up EI, LI, JUV pts.
(N = 21)
NR (< 1–11) yrs • Disability scale
• Psychomotor development
EI: 0.8 (NR) yrs
LI: 1.2 (NR) yrs
JUV: 1.3 (NR) yrs
• Ambulation, fine/gross motor movements, swallowing, speech and VSSP generally stabilised
• Reduced psychomotor delay
  1. aAge at disease onset or diagnosis; ChT chitotriosidase, DDST Denver developmental screening test, EI early-infantile, HSEM horizontal eye movements, JUV juvenile, LI late infantile, MRI magnetic resonance imaging, MRS magnetic resonance spectroscopy, NR not reported, PET positron emission tomography, pt./pts. patient(s), RCT randomised controlled trial, SAI standard ambulation index, VFS video-fluoroscopic analysis, WISCR Wechsler Intelligence Scale for Children