The impaired enzymatic activity results in accumulation of glycosphingolipids with terminal alpha-galactosyl residues. The lipids arise from intracellular synthesis, circulating metabolites, or from the biodegradation of senescent cells. The number of people estimated to suffer from this disease range from a few thousand to as many as 50,000 with most common symptoms appearing around the age of 20. These symptoms include painful episodes afflicting the extremities.
Patients have an increased risk for kidney disease and heart disease and a reduced life expectancy.
A single enzyme genetic defect provides a convenient target for correction by gene therapy approaches. By incorporating a functional form of alpha-galactosidase A into Fabry patient hMSCs. Possible reversal of the disease state may result due to the continuous secretion of natural enzyme from the hMSCs. Osiris is currently constructing an optimized vector for delivery of alpha-galactosidase and hopes to enter clinical trials using autologous cellular delivery of the enzyme product.