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Review
. 2020 Jul;98(7):931-946.
doi: 10.1007/s00109-020-01935-6. Epub 2020 Jun 11.

Lysosomal storage diseases: current therapies and future alternatives

Andrés Felipe Leal  1 , Angela Johana Espejo-Mojica  1 , Oscar F Sánchez  2 , Carlos Manuel Ramírez  3 , Luis Humberto Reyes  3 , Juan C Cruz  4 , Carlos Javier Alméciga-Díaz  5
Affiliations
Review

Lysosomal storage diseases: current therapies and future alternatives

Andrés Felipe Leal et al. J Mol Med (Berl). 2020 Jul.

Abstract

Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by progressive accumulation of undegraded substrates into the lysosome, due to mutations in genes that encode for proteins involved in normal lysosomal function. In recent years, several approaches have been explored to find effective and successful therapies, including enzyme replacement therapy, substrate reduction therapy, pharmacological chaperones, hematopoietic stem cell transplantation, and gene therapy. In the case of gene therapy, genome editing technologies have opened new horizons to accelerate the development of novel treatment alternatives for LSD patients. In this review, we discuss the current therapies for this group of disorders and present a detailed description of major genome editing technologies, as well as the most recent advances in the treatment of LSDs. We will further highlight the challenges and current bioethical debates of genome editing.

Keywords: CRISPR/Cas9; Enzyme replacement therapy; Genome editing; Lysosomal storage disorders.

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