Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

ABSTRACT: Enzyme replacement therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, the treatment has side effects, is costly, and requires conspicuous amounts of recombinant human protein (rh-AGAL). Thus, its optimization would benefit patients and welfare/health services (i.e., society at large). In this brief report, we describe preliminary results paving the way for two possible approaches: i. the combination of enzyme replacement therapy with pharmacological chaperones; and ii. the identification of AGAL interactors as possible therapeutic targets on which to act. We first showed that galactose, a low-affinity pharmacological chaperone, can prolong AGAL half-life in patient-derived cells treated with rh-AGAL. Then, we analyzed the interactomes o

SUBMITTER: Iacobucci I 

PROVIDER: S-EPMC10003632 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature