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KMID : 1146120210050010022
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Journal of Mucopolysaccharidosis and Rare Diseases
2021 Volume.5 No. 1 p.22 ~ p.28
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Novel Therapeutic Approaches to Mucopolysaccharidosis Type III
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Yang A-Ram
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Abstract
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Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.
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KEYWORD
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Mucopolysaccharidosis type III, Sanfilippo disease, Lysosomal storage disease, Heparin sulfate, Gene therapy, Substrate reduction therapy
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