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. 2023 Aug 7;13(8):1227. doi: 10.3390/biom13081227

Table 1.

Different therapeutic approaches for treating LSDs and current descriptions of approved therapies (in at least one geography).

Enzyme Replacement Therapy
(ERT)		 Substrate Reduction Therapy
(SRT)		 Pharmacological Chaperone Therapy
(PCT)
Molecular or physiological target Absent or reduced protein function Metabolic cascade Endogenous and/or exogenous protein trafficking/stability
Mechanism of action Substitute or addition of missing or deficient endogenous enzyme with exogenously delivered enzyme Interferes with the abnormalaccumulation of substrate

  1. Stabilize and restore intracellular trafficking to increase activity of endogenous mutant enzymes

  2. Stabilize exogenous ERTs during trafficking from blood to site of action (e.g., lysosome)
Approved therapy Agalsidase alfa and beta for Fabry disease; alglucosidase alfa, avalglucosidase alfa and cipaglucosidase * for Pompe disease; and velaglucerase and imiglucerase for Gaucher disease [11] Eliglustat [29] for Gaucher disease and miglustat [30] for Gaucher disease and NPC disease.

  1. Example: migalastat for Fabry disease [31,32,33,34,35,36,37,38,39,40,41]

  2. Example: miglustat * for Pompe disease [26]

* Cipaglucosidase alfa is approved in Europe with the enzyme stabilizer miglustat as a two-component therapy for Pompe disease. Abbreviations: LSDs, lysosomal storage disorders.