Gene therapy for metachromatic leukodystrophy and Gaucher disease

Lysosomal storage disorders (LSD(S)) are genetic disorders due to the deficiencies of lysosomal enzymes and resulting in the intracellular accumulation of toxic substrates in different organs, including the Central Nervous System (CNS). Currently, only symptomatic treatments are available for a number of these disorders. In fact, BMT has been carried out for several lysosomal storage diseases, and while normalized levels of enzymatic activity are typically observed in peripheral blood leukocytes after successful BMT, reports have varied concerning improvements in the neuropsychological status of patients with CNS involvement. Therefore, gene therapy might be a route to be pursued for the treatment of these diseases. This review describes possible approaches for gene therapy of two of the most frequent LSD: Metachromatic Leukodystrophy and Gaucher disease.