Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Abstract

Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mutations causing abnormal glycolipid storage. Drug repositioning involves repurposing existing approved drugs for new therapeutic applications, offering advantages in cost, time savings, and a lower risk of failure. We present a comprehensive analysis of existing drugs, their repurposing potential, and their clinical implications in the context of LSDs, highlighting the necessity of mutation-specific approaches. Our review systematically explores the landscape of drug repositioning as a means to enhance LSDs therapies. The findings advocate for the strategic repositioning of drugs, accentuating its role in expediting the discovery of effective treatments. We conclude that drug repurposing represents a viable pathway for accelerating therapeutic discovery for LSDs, emphasizing the need for the careful evaluation of drug efficacy and toxicity in disease-specific contexts.

Keywords: drug repositioning; drug repurposing; lysosomal enzyme disorder; lysosomal storage disease; lysosomal storage disorder.

Figure 1

Visualization of the article selection process.

Figure 2

UpSet plot that conveys the funding distribution and access status of scholarly papers. Horizontal bars at the bottom visualize the total count of papers funded by each scheme. The vertical bars show the frequency of papers with multiple funding sources. Connected dots highlight the specific financing sources involved in each composition. The color coding distinguishes between open-access (OA, blue) and closed-access (Not OA, orange) papers, with the numbers atop the bars indicating the size of each intersection.

Figure 3

Term co-occurrence network of the 27 papers. Nodes are relevant terms present in at least three titles or abstracts; links represent contemporary presence. Colors mark groups of tightly knit terms (i.e., modularity clustering). Abbreviations: npc, Niemann–Pick disease; gaa, Pompe disease; gb3, Globotriaosylceramide.