Genzyme therapy in Niemann-Pick disease

Genzyme has presented promising pre-clinical data on the use of gene transfer as a form of enzyme replacement therapy to treat Type A Niemann-Pick disease, a severe genetic disorder affecting the brain, at the American Society of Gene Therapy conference in Washington DC.

Results from the study have demonstrated that this form of Niemann-Pick disease is highly responsive to enzyme replacement in an animal model of the disease. The data also show that expression and release of the deficient enzyme following gene transfer leads to rapid, widespread reversal of the brain pathology.

Type A Niemann-Pick disease is a progressive and fatal neurodegenerative form of the lysosomal storage disorder caused by a genetic defect that leads to a nearly complete lack of the enzyme acid sphingomyelinase. As a result of this deficiency, excessive levels of metabolic substrate (sphingomyelin) are deposited in a number of organs, including the brain, where it leads to loss of function and eventual cell death.