MPS III is a lysosomal storage disease: Heparan sulfate is not degraded resulting in an accumulation in cells. One of the therapeutic avenues consists in limiting heparan sulfate synthesis in order to limit its accumulation. This approach is known as “substrate reduction therapy”.
MPS III is an enzymatic disease: Four heparan sulfate-degrading enzymes are involved. Several pharmacological approaches can be envisaged. One of these consists in replacing the deficient enzyme: this is called enzyme replacement therapy; another approach consists in reinforcing the action of residual enzymatic activity through the use of molecular chaperones; another is to “force enzyme expression” through a stop codon read-through. See “Alliance SANFILIPPO Strategic Programs”
MPS III is a genetic disease: Four encoding genes corresponding to the four enzymes are involved and, for each gene, there are dozens of different mutations that have been identified or are in the process of being identified. The genetic origins are therefore extremely variable, as are biochemical and clinical expressions. One of the most promising research avenues involves replacing the defective gene: this is called gene therapy. Another avenue entails grafting stem cells carrying the normal gene: this is called cell therapy. See “Alliance SANFILIPPO Strategic Programs”
MPS III is a neurodegenerative disease: Precise understanding of the mechanisms that lead to damage of the central nervous system and identification of biological markers related to degeneration will help researchers find treatments that will be effective as early as possible in disease development in order to avoid irreversible damage. See “Alliance SANFILIPPO Strategic Programs”