Current and Emerging Therapies for Lysosomal Storage Disorders.

Abstract

Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected. The heterogeneous nature of LSDs results in a variety of treatment approaches, which must be tailored to patient presentation and characteristics. The treatment landscape for LSDs is rapidly evolving. An up-to-date discussion of current evidence is required to provide clinicians with an appropriate overview of treatment options. Therefore, we aimed to review current and ongoing trials pertaining to the treatment of common LSDs.