Sanfilippo syndrome (6, 16, 17), or mucopolysaccharidosis III (MPSIII), is a rare, autosomal recessive inherited lysosomal storage disease characterized by severe intellectual development impairment and behavioral abnormalities. The symptoms usually make their debut in children around the ages of 3 to 6 years. The disease is caused by mutations in one of four enzymes involved in the breakdown of heparan sulfate, a polysaccharide found in all animal cells. The neurological symptoms become progressively more severe with excessive abnormal movements, aggressiveness, seizures and intellectual decline.
There is no cure for MPSIII available today. Death typically occurs around the second decade. Axcentua is exploring the potential utility of the company’s patented crystalline form of genistein (genistein-SSDH or AXP107-11) as a treatment for MPSIII. The scientific rational to explore this opportunity is based on the finding that genistein can slow the progress of symptoms (6) in a mice knock-out model mimicking the human phenotype. Axcentua has been granted an orphan drug designation from the European Medicinal Product Agency for treatment of MPSIII patients with genistein SSDH (19).