YIN-HSIU CHIENSTEVEN SHINN-FORNG PENGYang C.C.NI-CHUNG LEELI-KAI TSAIHuang A.C.Su S.C.Tseng C.C.WUH-LIANG HWU2020-09-222020-09-2220130141-8955https://scholars.lib.ntu.edu.tw/handle/123456789/514128Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease characterized by progressive neurological manifestations. Oral miglustat was first approved for the treatment of children and adults with NP-C in Europe in 2009. There are still relatively few published data on the long-term efficacy and safety of miglustat in patients with NP-C in clinical practice. We report the effects of up to 6 years of treatment with miglustat 100 mg t.i.d. in five children. Overall, 3/5 patients displayed progressive dysphagia before starting miglustat, and 4/5 showed marked cognitive and/or motor impairment. The mean age at treatment start was 11.6 years, and the median (range) duration of therapy so far is 4 (4.1 to 6.1) years. No treatment dose alterations were required, but therapy was interrupted for 1-3 months at least once in all patients due to supply issues. Swallowing function was stabilised during miglustat therapy, with no significant increase in Han dysphagia scale or aspiration-penetration index scores among four evaluable patients (p > 0.05). Scores on the mini-mental state examination indicated an improvement in cognitive function during the first 3-6 months of miglustat therapy, followed by stabilisation up to 5 years. Ambulatory function remained stable for at least the first 2 years of treatment in most patients, but there was a trend towards deterioration thereafter, possibly related to treatment interruptions. The safety/tolerability profile of miglustat was similar to previous clinical studies, although reports of gastrointestinal disturbances were rare. Overall, miglustat appeared to stabilise key parameters of neurological disease progression. ? 2012 SSIEM and Springer.[SDGs]SDG3miglustat; adolescent; article; child; clinical article; cognition; cognitive defect; diarrhea; drug efficacy; drug safety; drug tolerability; dysphagia; gastrointestinal symptom; human; medical parameters; mental health; motor dysfunction; neurologic disease; Niemann Pick disease; onset age; paresthesia; preschool child; psychologic test; school child; scoring system; swallowing; treatment duration; treatment response; 1-Deoxynojirimycin; Child; Child, Preschool; Cognition; Deglutition; Disease Progression; Drug Administration Schedule; Female; Humans; Male; Nervous System Diseases; Niemann-Pick Disease, Type C; Time; Treatment Outcomejournal article10.1007/s10545-012-9479-9224766552-s2.0-84872611654