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 • SAI | 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 • MRI • MRS | 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 |