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) |