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Treatment trials in Niemann-Pick type C disease
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Abstract
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.
Springer Science and Business Media LLC
Title: Treatment trials in Niemann-Pick type C disease
Description:
Abstract
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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