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Table 3 Summary of key case reports

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 durationb Reported treatment effects
Chien et al. (2007) [53] Case report on 2 pts. with 1-yr follow up EI, JUV pts. (N = 2) • VFS • HSEM-α, visual pursuit • Cog. function (MMSE) 1 yr • Improved/stabilised swallowing and ambulation • Stable plasma ChT
Santos et al. (2008) [109] Single-pt. case report with 12-mo follow up JUV pt. (N = 1) • Disability scale • Psychology and behaviour (CBCL) 1 yr • Stable disability scores • Improved speech, movement and seizures • Improved cog. Function • Reduced depression/affective symptoms
Scheel et al. (2010) [87] Single-pt. case report with 12-mo follow up A/A pt. vs. age-matched controls (N = 18) 29 yrs • DTI • Saccadic eye movements 1 yr • Improved FA in the corpus callosum
Di Rocco et al. (2012) [124] Case report on 2 pts. with up to 7 yrs’ follow up EI pts. (N = 2) Pt 1: 7 mo Pt 2: 19 mo • Neurological examination • Mental development scale • MRI Pt 1: 5 yrs Pt 2: 7 yrs • Neurological stabilisation
Chien et al. (2013) [52] Single-centre case series with up to 6-yr follow up EI, JUV pts. (N = 5) NR (4–8) yrs • VFS • Cog. function (MMSE) • SAI 4 (4–6) yrs • Swallowing function stabilised • Improved/stabilised cognitive function • 2-year stabilisation of ambulation
Mattsson et al. (2013) [110] Single-pt. case report A/A pt. (N = 1) 44 yrs • Neurological examination • Ocular motor examination • MRI, SPECT, EEG NR • Improved speech (from mutism to complete, coherent sentences)
Szakszon et al. (2014) [102] Single-pt. case report with 3-yr follow up JUV pt. (N = 1) 10 yrs • Neurological examination • Psychiatric consultation • MRI 3 yrs • Complete recovery from psychosis
Maubert et al. (2015) [107] Case report in sibling pair A/A pt. (N = 1) Pt. 1: 22 yrs Pt. 2: 21 yrs • Neurological examination • Cog. function (MMSE) Pt 1: 1.7 yr Pt2: NA • Stable psych. Symptoms and cog. Function • Cessation of anti-psychotic therapy • Greater independence
Cuisset et al. (2016) [99] Single-pt. case report in atypical NP-C JUV pt. (N = 1) 10 yrs • Swallowing (VFS) • SAI 3 yrs • Global improvement • Improved cog. and ambulatory function • Abolition of seizure activity
Abe and Sakai (2017) [97] Single-pt. case report with 20-yr follow up JUV pt. (N = 1) 20 yrs • Neurological examination • Swallowing (clinical) • MRI 4 yrs • Improved swallowing capacity • Improved and muscle tone
Benussi et al. (2017) [59] Prospective, single-centre case-control study A/A pts. vs. healthy controls (N = 22) 35 (25–57) yrs • TMS • Cog. function (MMSE, other) 1.0 (NA) yr • Improved LTP-like cortical plasticity • Improved short-latency afferent inhibition • Improved/stabilised movement
Hassan et al. (2017) [93] Single-pt. case report in a pt. with cerebellar ataxia A/A pt. (N = 1) • TMS • Cog. function 1.3 yrs • Reduced short-latency afferent inhibition (sensorimotor integration)
  1. aAge at disease onset or diagnosis; bsingle-patient follow up for case reports; A/A adolescent/adult-onset, CBCL Child behaviour checklist, ChT chitotriosidase, DTI diffusion tension imaging, EEG electroencephalography, EI early-infantile, FA fractional anisotropy, HSEM horizontal saccadic eye movements, JUV juvenile, LI late infantile, MMSE mini-mental state examination, MRI magnetic resonance imaging, NR not reported, SAI, standard ambulation index, TMS transcranial magnetic stimulation, VFS video-fluoroscopic analysis