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.
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Published: 2013 Jan;13(1):7-10. doi: 10.1517/14712598.2013.738663. Epub 2012 Nov 6.