Journal article

Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat

Courtney Lewis, Megan Keage, Miyuki Watanabe, Danielle Schubiger, Dennis Velakoulis, Mark Walterfang, Adam P Vogel

Dysphagia | SPRINGER | Published : 2020

Abstract

Niemann-Pick disease type C (NPC) is a rare, autosomal recessive neurodegenerative disease, characterized by progressive psychiatric and neurological deficits. Neurological symptoms include cognitive decline and dysphagia. Aspiration pneumonia secondary to dysphagia is a leading cause of death in NPC. Miglustat is currently the only approved disease-specific treatment shown to be effective in stabilizing neurological symptoms. Miglustat has previously been reported to halt or improve early dysphagia and cognitive symptoms. Here we examine the characteristics of dysphagia, the relationship between dysphagia and the presence of cognitive impairment, and longitudinal changes in swallowing funct..

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Grants

Awarded by National Health and Medical Research Council, Australia Dementia Fellowship


Funding Acknowledgements

Ms Lewis is funded by an Australian Government Research Training Program Stipend Scholarship. Prof Walterfang has received funding for research from, and has served on advisory boards for, Actelion Pharmaceuticals (manufacturer of miglustat) and Vtesse Pharmaceuticals. Dr Keage reports no relevant disclosures. Danielle Schubiger has received funding for research from Actelion Pharmaceuticals. Ms Watanabe reports no relevant disclosures. A/Prof Vogel is funded by National Health and Medical Research Council, Australia Dementia Fellowship (#1,135,683) and is Chief Science Officer of Redenlab, who consult to a range pharmaceutical companies on clinical assessments.