Seker Yilmaz, B;
Davison, J;
Jones, SA;
Baruteau, J;
(2021)
Novel therapies for mucopolysaccharidosis type III.
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 129-147.
10.1002/jimd.12316.
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Abstract
Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The classical presentation is an infantile‐onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease‐modifying therapy has yet been approved. Here, we review the numerous approaches of curative therapy developed for MPS III from historical ineffective haematopoietic stem cell transplantation and substrate reduction therapy to the promising ongoing clinical trials based on enzyme replacement therapy or adeno‐associated or lentiviral vectors mediated gene therapy. Preclinical studies are presented alongside the most recent translational first‐in‐man trials. In addition, we present experimental research with preclinical mRNA and gene editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of an early therapy before extensive neuronal loss. A disease‐modifying therapy for MPS III will undoubtedly mandate development of new strategies for early diagnosis.
| Type: | Article |
|---|---|
| Title: | Novel therapies for mucopolysaccharidosis type III |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/jimd.12316 |
| Publisher version: | https://doi.org/10.1002/jimd.12316 |
| Language: | English |
| Additional information: | Copyright © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Adeno‐associated virus, enzyme replacement therapy, gene editing, gene therapy, heparan sulfate, lentivirus, lysosomal storage disease, mRNA, mucopolysaccharidosis type III, Sanfilippo disease, substrate reduction therapy |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10110949 |
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