Gene therapy familial hypercholesterolemia

Currently, there is stUl a gap for the potential of gene therapy to be fulfilled. Gene therapy clinical trials have been conducted for diseases such as severe combined immunodeficiency disease (SCID, bubble baby syndrome), sickle cell anemia, cystic fibrosis, familial hypercholesterolemia, and Gaucher disease. 

For ethical reasons, children enrolled in these clinical trials have also received standard therapy of enzyme infusions, so the results of these studies have been difficult to interpret and are controversial. Nevertheless, there is some evidence that the ex vivo gene transfer approach may evoke a biological response relevant to the treatment of ADA deficiency. Such interpretations have stimulated efforts to use the ex vivo strategy for other monogenic disorders, such as familial hypercholesterolemia, hemophilia B, and Gaucher s disease. 

Hepatocyte transplantation is being explored as an alternative to whole-organ transplantation. In addition, gene transfer therapy is being developed for familial hypercholesterolemia. A non-invasive method to serially assess the metabolic status and proliferation of hepa-tocytes transferred as treatment for end-stage liver disease or genetic... 

Shichiti M, Tanaka A, Hirata Y. 2003. Intravenous gene therapy for familial hypercholesterolemia using ligand facilitated transfer of liposomes LDL receptor gene complex. Gene Ther. 10 827-831. 

Raper SE, Grossman M, Rader DJ, et al Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia. Ann Surg 223 116-116,1996. 

Familial homozygous hypercholesterolemia is a rare hereditary monogenic disorder caused by mutations of the LDL receptor gene. Individuals have severe hypercholesterolemia associated with premature atherosclerosis. In a single study, patients were treated with gene therapy... 

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