New perspectives in pharmacological development of storage diseases

Abstract

LSDs include a group of inherited metabolic disorders characterized by the accumulation of undegraded substrates within lysosomes, resulting in progressive organ dysfunction and severe clinical manifestations. The gold standard to treat most of LSDs is enzyme replacement therapy (ERT), however it has shown to provide only a partial efficacy and it has shown several limitations, therefore in the last 2 decades new approaches to treat LSDs have emerged. including - Gene therapy, Small-molecule chaperones, Substrate reduction therapy, Pharmacological modulation of autophagy and proteostasis pathways, Hematopoietic stem cell transplantation (HSCT) and Preimplantation genetic diagnosis (PGD).