Gene therapy for lysosomal storage diseases

The lysosomal storage diseases are a family of inherited disorders usually caused by a deficiency in a single lysosomal enzyme, and are characterised by progressive intralysosomal storage in multiple cell types. Although individual syndromes can be uncommon, as a whole this family of diseases affects approximately 1 in 3,000 live births. The severity of disease can be variable, ranging from minimal evidence of lysosomal storage to widespread multi-system involvement and early mortality. Although the enzymatic defects responsible for most of these diseases are known, treatment options for the majority of these disorders are limited to supportive care and genetic counselling. Knowledge of the genetic defects underlying these diseases, coupled with advances in the fields of gene transfer and expression, provide an opportunity to utilise gene therapy strategies in order to treat these disorders. Here we provide a description of the biochemical and molecular basis of gene therapy for lysosomal storage diseases, as well as an overview of some of the in vitro and in vivo studies that have been performed.