期刊
CURRENT ATHEROSCLEROSIS REPORTS
卷 18, 期 5, 页码 -出版社
CURRENT MEDICINE GROUP
DOI: 10.1007/s11883-016-0579-0
关键词
Gene therapy; Homozygous familial hypercholesterolemia; LDL receptor; Adeno-associated virus (AAV); Adenovirus; iPSC
资金
- NIH-NHLBI [HL059407]
- Regeneron Pharmaceuticals
- Sanofi-Aventis
- Aegerion Pharmaceuticals
Homozygous familial hypercholesterolemia (HoFH) is a life-threatening Mendelian disorder with a mean life expectancy of 33 years despite maximally tolerated standard lipid-lowering therapies. This disease is an ideal candidate for gene therapy, and in the last few years, a number of exciting developments have brought this approach closer to the clinic than ever before. In this review, we discuss in detail the most advanced of these developments, a recombinant adeno-associated virus (AAV) vector carrying a low-density lipoprotein receptor (LDLR) transgene which has recently entered phase 1/2a testing. We also review ongoing development of approaches to enhance transgene expression, improve the efficiency of hepatocyte transduction, and minimize the AAV capsid-specific adaptive immune response. We include a summary of key gene therapy approaches for HoFH in pre-clinical development, including RNA silencing of the gene encoding HMG-CoA reductase (HMGCR) and induced pluripotent stem cell transplant therapy.
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