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Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. | LitMetric

AI Article Synopsis

  • The treatment options for lysosomal storage disorders (LSDs) are improving, with recent studies showing that pharmacological chaperones may be a viable alternative to traditional enzyme replacement therapy (ERT).
  • A systematic review of 52 articles highlighted the effectiveness of these chaperones in treating diseases like Fabry, Gaucher, and Pompe, with most research focused on migalastat for Fabry disease.
  • To address inconsistencies in terminology, the authors suggest a new classification system for small molecule chaperones to standardize future research and therapies for LSDs.

Article Abstract

The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacological chaperones are a feasible alternative to enzyme replacement therapy (ERT) for individuals with LSDs. A systematic search was performed to retrieve and critically assess the evidence from preclinical and clinical applications of pharmacological chaperones in the treatment of LSDs and to elucidate the mechanisms by which they could be effective in clinical practice. Publications were screened according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) reporting guidelines. Fifty-two articles evaluating 12 small molecules for the treatment of seven LSDs are included in this review. Overall, a substantial amount of preclinical and clinical data support the potential of pharmacological chaperones as treatments for Fabry disease, Gaucher disease, and Pompe disease. Most of the available clinical evidence evaluated migalastat for the treatment of Fabry disease. There was a lack of consistency in the terminology used to describe pharmacological chaperones in the literature. Therefore, the new small molecule chaperone (SMC) classification system is proposed to inform a standardized approach for new, emerging small molecule therapies in LSDs.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452329PMC
http://dx.doi.org/10.3390/biom13081227DOI Listing

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