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Therapy development for the lysosomal storage disease Fucosidosis using the canine animal model

Citation

Fletcher, JL and Taylor, RM, Therapy development for the lysosomal storage disease Fucosidosis using the canine animal model, Pediatric Endocrinology Reviews, 13, (Suppl 1) pp. 602-611. ISSN 1565-4753 (2016) [Refereed Article]

Copyright Statement

2017 by MEDICALMEDIA for PER Pediatric Endocrinology Reviews. All rights reserved

Official URL: https://www.pediatricendoreviews.com/volume-13-sup

Abstract

Abstract Fucosidosis (OMIM 23000) is an inherited neurodegenerative lysosomal storage disease caused by a deficiency of the lysosomal hydrolase a-L-fucosidase due to mutations in the FUCA1 gene. Without enzyme-targeted therapy patients rarely survive beyond the first decade of life, and therapy options other than supportive care are limited. Hematopoietic transplants, first developed in the fucosidosis dog model, are the only treatment option available capable of delaying the disease course. However, due to the risks and exclusion criteria of this treatment additional therapies are required. The development of additional therapies including intravenous and intra-cerebrospinal fluid enzyme replacement therapy and gene therapy, which have been trialed in the canine model, will be discussed.

Item Details

Item Type:Refereed Article
Keywords:lysosomal storage disease, fucosidosis, enzyme replacement therapy
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biomedical and clinical sciences
UTAS Author:Fletcher, JL (Dr Jessica Fletcher)
ID Code:147203
Year Published:2016
Web of Science® Times Cited:1
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-19
Last Modified:2021-11-08
Downloads:0

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