Long-term miglustat therapy in children with Niemann-Pick disease type C

MC Patterson, D Vecchio, E Jacklin… - Journal of child …, 2010 - journals.sagepub.com
MC Patterson, D Vecchio, E Jacklin, L Abel, H Chadha-Boreham, C Luzy, R Giorgino…
Journal of child neurology, 2010journals.sagepub.com
Niemann-Pick disease type C is a rare, genetic disease associated with impaired
intracellular lipid trafficking and progressive neurological symptoms. Miglustat slowed
disease progression in a 12-month randomized trial in juveniles and adults with Niemann-
Pick disease type C, and in a parallel, noncontrolled study in affected children. Here, the
authors report the open-label extension to the pediatric study. Patients aged 4 to 12 years
received open-label miglustat (dose adjusted for body surface area) for an initial 12 months …
Niemann-Pick disease type C is a rare, genetic disease associated with impaired intracellular lipid trafficking and progressive neurological symptoms. Miglustat slowed disease progression in a 12-month randomized trial in juveniles and adults with Niemann-Pick disease type C, and in a parallel, noncontrolled study in affected children. Here, the authors report the open-label extension to the pediatric study. Patients aged 4 to 12 years received open-label miglustat (dose adjusted for body surface area) for an initial 12 months, during a further 12-month extension, and a long-term, continued extension phase. Efficacy assessments included horizontal saccadic eye movement, swallowing, and ambulation. Ten children completed 24 months’ treatment. Horizontal saccadic eye movement, ambulation, and swallowing were stabilized at 24 months. Analysis of key parameters of disease progression showed disease stability in 8 of 10 patients (80%). Miglustat stabilized neurological disease progression in pediatric patients with Niemann-Pick disease type C, with comparable safety and tolerability to that observed in adults and juveniles.
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