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Enzyme Replacement Therapies for Lysosomal Storage Diseases
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Lysosomal Storage Disorders (LSDs): Genetic; Rare; Autosomal recessive (majority). Portugal - 1/4000; Almost 70!. The concept of enzyme replacement as a potential therapeutic approach to ameliorate lysosomal storage disorders (LSDs) is virtually as old as the concept of LSD itself. In fact, both concepts were established right after the first enzymatic deficiency underlying an LSD was described, and enzyme replacement therapy (ERT) remained the golden standard for LSD treatment for years. Nevertheless, its ineffectiveness to correct brain pathology, together with its high cost and lifelong dependence prompted the search for additional therapeutic approaches, which are currently being investigated: chaperone therapy; gene enhancement and gene therapy. Still, no matter how effective the treatment or cutting-edge the technology used in any of these cases, the underlying rationale is virtually the same: an attempt to provide or enhance the activity of the missing enzyme.
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Lysosomal Storage Diseases Enzyme Replacement Therapy Doenças Genéticas Genética Humana