Journal article

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

Larry A Abel, Mark Walterfang, Matthew J Stainer, Elizabeth A Bowman, Dennis Velakoulis

Orphanet Journal of Rare Diseases | BMC | Published : 2015

Abstract

BACKGROUND: Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature of NPC is a vertical supranuclear gaze palsy particularly affecting saccades. However, horizontal saccades are also impaired and as a consequence a parameter related to horizontal peak saccadic velocity was used as an outcome measure in the clinical trial of miglustat, the first drug approved in several jurisdictions for the treatment of NPC. As NPC-related neuropathology is widespread in the brain we examined a wider range of horizontal saccade parameters and to determine whether these showed treatment-related improvement and, if so, if this was mai..

View full abstract

Grants

Funding Acknowledgements

Larry Abel has served as a consultant on previous clinical trials and currently as a consultant for and received funding for travel from Actelion. Mark Walterfang has served on a scientific advisory board and as a consultant for and received funding for travel from Actelion Pharmaceuticals Ltd. and received royalties from the publication of Kaplan and Sadock's Comprehensive Textbook of Psychiatry (Lippincott Williams & Wilkins, 2009). Elizabeth Bowman has received salary support through an unrestricted educational grant to The University of Melbourne from Actelion Pharmaceuticals Limited. Dennis Velakoulis has received royalties from the publication of Kaplan and Sadock's Comprehensive Textbook of Psychiatry (Lippincott Williams & Wilkins, 2009) and research support from the NHMRC. Matthew Stainer has no competing interests.