Premium
Emerging therapies for neurodegenerative lysosomal storage disorders ‐ from concept to reality
Author(s) -
Hemsley Kim M.,
Hopwood John J.
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9341-5
Subject(s) - lysosomal storage disorders , lysosomal storage disease , lysosome , substrate reduction therapy , pipeline (software) , medicine , bioinformatics , neuroscience , enzyme replacement therapy , computational biology , biology , computer science , disease , pathology , enzyme , biochemistry , programming language
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.