Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders
caused mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular
compounds inside cells and extracellular volumes in affected organisms. Genetic diseases
are among the most difficult targets for medical treatment. Nevertheless, understanding of molecular bases of
LSDs made it possible to develop novel procedures of treatment, employing molecular medicine. Although
various therapeutic approaches have been proposed, and some of them were introduced into clinical practice,
none of them was found to be effective in correcting all symptoms in treated patients. Central nervous system
and skeleton appear to be the most difficult targets to be improved. Therefore, a proposal appeared that
perhaps no single therapeutic procedure may be fully effective in treatment of LSD patients, and only
combination of two or more approaches could be a successful therapy. In this review, we present and discuss
current stage of various combination therapies for LSDs, based on already available published data.
Keywords: Combined therapies, enzyme replacement therapy, gene therapy, hematopoietic cell transplantation,
lysosomal storage diseases, small molecular chaperones, substrate reduction therapy.
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