Clinical trials of new therapies for mucopolysaccharidoses

Abstract

Background: Mucopolysaccharidoses (MPS) are a group of rare genetic diseases with a metabolic background. Currently, there are no effective methods of treating MPS, and new ways of treating patients are constantly being sought.Aim of the study: The purpose of this article is to review the available literature on clinical trials of new treatments for mucopolysaccharidoses.Material and methods: The review of research literature published between 1999 and 2023 was conducted, with a specific focus on the last ten years. The literature for this article was selected from publications available online in databases such as Google Scholar or PubMed. Research was based on keywords like: mucopolysaccharidoses, clinical trials, gene therapy, MPS. Results: A total of 104 publications were considered in the study, including 95 scientific articles and 9 clinical trial reports (consisting of 1 FDA approval). Out of those 104 articles, 82 discussed potential future therapies for patients with MPS. Among them, as many as 51 focused on gene therapy.Conclusions: The only currently approved treatments for mucopolysaccharidoses are enzyme replacement therapy and hematopoietic stem cell transplantation, which are not suitable for all types of MPS and have their limitations. In addition, there is no single therapy for all types of MPS, as they are the result of mutations in different genes and result from the deficiency of different enzymes. Numerous preclinical and clinical studies are being conducted on therapies for mucopolysaccharidoses. These include therapies that allow manipulation of cellular pathways, substrate reduction, or gene therapy, which is the most promising form of treatment. Some of the studies have successfully passed the first and second research phases.