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Treatment of lysosomal storage disorders: Focus on the neuronal ceroid-lipofuscinoses

100%

Pierret C., Morrison J. A., Kirk M. D.

issue 3

429-442

Recent advances in our understanding of lysosomal storage disorders (LSDs) may lead to new therapies to treat the neuronal ceroid-lipofuscinoses (NCLs). In this review, enzyme replacement therapy, gene therapy, cell-mediated therapy and pharmaceutical treatments are considered across the LSDs and extended to therapies for the NCLs. It is likely that a combination of approaches will produce the most beneficial clinical outcome for treatment of pathologies displayed by the NCLs.

Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases

63%

Jakobkiewicz-Banecka J., Wegrzyn A., Wegrzyn G.

Journal of Applied Genetics

2007

vol. 48

issue 4

383-388

Lysosomal storage diseases are a group of disorders caused by defects in enzymes responsible for degradation of particular compounds in lysosomes. In most cases, these diseases are fatal, and until recently no treatment was available. Introduction of enzyme replacement therapy was a breakthrough in the treatment of some of the diseases. However, while this therapy is effective in reduction of many somatic symptoms, its efficacy in the treatment of the central nervous system is negligible, if any, mainly because of problems with crossing the blood-brain-barrier by intravenously administered enzyme molecules. On the other hand, there are many lysosomal storage diseases in which the central nervous system is affected. Results of very recent studies indicate that in at least some cases, another type of therapy, called substrate deprivation therapy (or substrate reduction therapy) may be effective in the treatment of neuronopathic forms of lysosomal storage diseases. This therapy, based on inhibition of synthesis of the compounds that cannot be degraded in cells of the patients, has been shown to be effective in several animal models of various diseases, and recent reports demonstrate its efficacy in the treatment of patients suffering from Niemann-Pick C disease and Sanfilippo disease.

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1 Acta Neurobiologiae Experimentalis

1 Journal of Applied Genetics

1 2008

1 2007

1 Jakobkiewicz-Banecka J.

1 Kirk M. D.

1 Morrison J. A.

1 Pierret C.

1 Wegrzyn A.

1 Wegrzyn G.

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Treatment of lysosomal storage disorders: Focus on the neuronal ceroid-lipofuscinoses

Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases