Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency

被引：33

作者：

Wierzbicki, Anthony S. ^{[1
]}

Viljoen, Adie ^{[2
]}

机构：

[1] Guys & St Thomas Hosp, Dept Metab Med Chem Pathol, London SE1 7EH, England

[2] Lister Hosp, Stevenage SG1 4AB, Herts, England

来源：

EXPERT OPINION ON BIOLOGICAL THERAPY | 2013年 / 13卷 / 01期

关键词：

alipogene tiparvovec; chylomicronemia; gene therapy; lipoprotein lipase; triglyceride; SEVERE HYPERTRIGLYCERIDEMIA; BENEFICIAL MUTATION; ORLISTAT; S447X;

D O I：

10.1517/14712598.2013.738663

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Homozygous lipoprotein lipase (LPL) deficiency is an ultra-orphan disease associated with increased rates of pancreatitis. Current treatments based on acute plasmapheresis allied with ultra-low fat diets are inadequate as responses to fibrates or other triglyceride-lowering therapies tend to be poor. Alipogene tiparvovec is an adeno-associated virus type I (AAV1) gene therapy using a hyper-functional LPL serine(447)-stop (S447X) insert administered intramuscularly under general anaesthetic with allied immunosuppression. Treatment results in histological muscle expression of LPL allied with a transient 40% reduction in triglycerides and improvements in postprandial chylomicron triglyceride content. Alipogene tiparvovec is the first possibly curative treatment for LPL deficiency.

引用

页码：7 / 10

页数：4

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