College of Physicians and Surgeons
Niemann-Pick disease, type C (NPC), is a progressive neurodegenerative disorder in which abnormal intracellular lipid trafficking leads to accumulation of multiple lipids, including glycosphingolipids (GSLs). There is no effective therapy at present, and the outcome is invariably fatal. OGT918 inhibits the synthesis of GSLs, and has been shown to be of benefit in humans with Gaucher disease (a related disorder), and in murine models of NPC and GM2 gangliosidosis. This study will examine the tolerability and efficacy of OGT 918 in patients with NPC. The primary efficacy endpoint is horizontal saccadic velocity, a variable that can be reliably assessed in noninvasive fashion, and which is expected to show decline in untreated controls over the one-year study period.
Project Leader/Principal Investigator
Department of Neurology
Actelion Pharmaceuticals Ltd.
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital