GM1 Gangliosidosis

GM1 gangliosidosis is an autosomal recessive genetic disorder caused by an inactivating mutation of the lysosomal enzyme β-galactosidase (GLB1), which is required for the degradation of GM1 ganglioside and keratan sulfate. The infantile type of GM1 gangliosidosis is the most common and severe form of the disease, typically presenting with gait abnormalities by four months of age and developmental regression by six months. Many infantile GM1 patients experience rapid regression with mortality by approximately two years of age. The estimated worldwide incidence of infantile GM1 gangliosidosis is 0.5-1 per 100,000 live births. There are no disease modifying therapies for GM1, and the current standard of care is extremely limited. We plan to advance this program into the clinic in 2020.