Advance in the Mechanism and Treatment of Lysosomal Storage Disorders
A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".
Deadline for manuscript submissions: closed (15 August 2022) | Viewed by 3544
Special Issue Editor
Special Issue Information
Dear Colleagues,
Lysosomal storage disorders (LSDs) are inherited metabolic diseases usually caused by the deficiency of an enzyme, resulting in substrate accumulation. Clinical features vary among the disorders, but they all share a progressive course. The advent of enzyme replacement therapy (ERT) in the 1990s changed the natural history of Gaucher disease, the first treated LSD. Nowadays, many other ERTs are commercially available, but the morbidity and mortality of LSDs are still high. Current ERT has several limits: the enzymes are not able to cross the blood–brain barrier, it has poor efficacy in cases of late diagnosis, it has high costs, and it requires I.V. administration. Over the last few years, new therapeutic approaches involving small molecules, such as chaperone or substrate reduction therapies, have been approved. These drugs can be taken orally, but their efficacy and safety in the long term need to be demonstrated. New therapeutic frontiers are under study, including treatments for different LSDs, systems to potentiate ERT, approaches for neurological complications, and genetic therapies.
Given these developments, we invite researchers to contribute original studies, as well as review articles, addressing recent advances in the treatment of LSDs. Your ground-breaking research will contribute to the improvement of patients’ lives in the near future
Dr. Annalisa Sechi
Guest Editor
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Keywords
- lysosomal storage disorders
- enzyme replacement therapy
- chaperone
- substrate reduction therapy
- genetic therapy
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