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https://hdl.handle.net/2440/69913
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Type: | Journal article |
Title: | Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality |
Author: | Hemsley, K. Hopwood, J. |
Citation: | Journal of Inherited Metabolic Disease, 2011; 34(5):1003-1012 |
Publisher: | Kluwer Academic Publ |
Issue Date: | 2011 |
ISSN: | 0141-8955 1573-2665 |
Statement of Responsibility: | Kim M. Hemsley, John J. Hopwood |
Abstract: | Lysosomal storage disorders are inherited metabolic diseases in which a mutation in a gene encoding a lysosomal enzyme or lysosome-related protein results in the intra-cellular accumulation of substrate and reduced cell/tissue function. Few patients with neurodegenerative lysosomal storage disorders have access to safe and effective treatments although many therapeutic strategies have been or are presently being studied in vivo thanks to the availability of a large number of animal models. This review will describe the comparative advancement of a variety of therapeutic strategies through the 'research pipeline'. Our goal is to provide information for clinicians, researchers and patients/families alike on the leading therapeutic candidates at this point in time, and also to provide information on emerging approaches that may provide a safe and effective treatment in the future. The length of the pipeline represents the significant and sustained effort required to move a novel concept from the laboratory into the clinic. |
Keywords: | Animals Humans Lysosomal Storage Diseases, Nervous System Neurodegenerative Diseases Therapies, Investigational Cell Transplantation Concept Formation Models, Biological Evidence-Based Practice Enzyme Replacement Therapy Genetic Therapy |
Rights: | © SSIEM and Springer 2011 |
DOI: | 10.1007/s10545-011-9341-5 |
Published version: | http://dx.doi.org/10.1007/s10545-011-9341-5 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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