Treatment trials in Niemann-Pick type C disease

被引：0
作者：
Dominika Sitarska
Anna Tylki-Szymańska
Agnieszka Ługowska
机构：
[1] Institute of Psychiatry and Neurology,Department of Genetics
[2] The Children’s Memorial Health Institute,Department of Pediatric Nutrition and Metabolic Diseases
来源：
Metabolic Brain Disease | 2021年 / 36卷
关键词：
Niemann-Pick Type C disease; NPC; Therapy; Miglustat; HP-β-CD; Vorinostat; Arimoclomol; Gene Therapy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood–brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.
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页码：2215 / 2221
页数：6
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