title: Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency.
abstract: 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.
authors.forename: Anthony S
authors.initials: AS
authors.lastname: Wierzbicki
authors.forename: Adie
authors.initials: A
authors.lastname: Viljoen
mesh_terms: D000229:Dependovirus / Q000235:genetics*; D015316:Genetic Therapy; D005822:Genetic Vectors; D006801:Humans; D015228:Hypertriglyceridemia / Q000201:enzymology / Q000628:therapy*; D008071:Lipoprotein Lipase / Q000235:genetics*
chemical_list: D008071:Lipoprotein Lipase