Intracisternal cyclodextrin ameliorates neurological dysfunction, increases survival time, and stops Purkinje cell death in feline Niemann–Pick type C1 disease

Vite, Charles H.; Bagel, Jessica H.; Swain, Gary P.; Prociuk, Maria; Sikora, Tracey; O’Donnell, Patricia; Ruane, Therese; Ward, Sarah; Crooks, Alexandra; Li, Su; Mauldin, Elizabeth A.; Stein, Veronika M.; Ory, Daniel S.; Kao, Mark; Davidson, Cristin; Vanier, Marie T.; Walkely, Steven U.

doi:10.1016/j.ymgme.2014.12.280

Cited by 2 publications

(1 citation statement)

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“…Just recently, a phase 1–2 clinical trial with monthly 2-hydroxypropyl-β-cyclodextrin was performed on 14 patients with NPC and showed slowed disease progression, in particular in ambulation, cognition, and speech, with an acceptable safety profile 155 . Since 2-hydroxypropyl-β-cyclodextrin does not efficiently cross the blood-brain barrier 156 and high-dose systemic delivery can be associated with pulmonary toxicity 149 , 157 , lumbar intrathecal administration is the route of choice but has common adverse events, such as post–lumbar puncture headache, reported in 64% of cases 155 . At doses above 600 mg, unexpected adverse events included post-administration unsteadiness and fatigue, which were transient and typically occurred 24 to 72 hours after dosing 155 .…”

Section: Treatmentsmentioning

confidence: 99%

Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC

Benussi

Cotelli²,

Padovani

et al. 2018

F1000Res

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Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer’s disease and frontotemporal dementia, and identifying possible candidate biomarkers for disease staging and response to treatment. Miglustat, which reversibly inhibits glycosphingolipid synthesis, has been licensed in the European Union and elsewhere for the treatment of NPC in both children and adults. A number of ongoing clinical trials might hold promise for the development of new treatments for NPC. The objective of the present work is to review and evaluate recent literature data in order to highlight the latest neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC pathophysiology. Furthermore, ongoing developments in disease-modifying treatments will be briefly discussed.

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