Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems

A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder. This disorder causes alterations in lipid metabolism, leading to increased levels of lipids and cholesterol accumulating in the lysosomes of cells. This accumulation causes damage to various organ systems resulting primarily in neurodegenerative manifestations, eventually leading to death. There are three types of Niemann-Pick disease designated as Type A, Type B, and Type C. Currently, there are no cures for any type of Niemann-Pick disease. And there are no disease-modifying therapies for the treatment of Niemann-Pick disease Types A or B. Current strategies for these diseases include only supportive therapy. There is only one disease-modifying therapy for Niemann-Pick disease Type C, which is miglustat. In recent years, however, there has been more research on novel drug delivery systems to increase efficacy in treating Niemann-Pick disease. A brief introduction to genetic disorders, metabolic disorders, Niemann-Pick disease, and some currently used and potential novel drug delivery systems are discussed in more detail in the chapter.