David Weinstein, MD, Senior Vice President of Clinical Development at Passage Bio, provides an overview of GM1 gangliosidosis.
As Dr. Weinstein explains, GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene, which encodes the lysosomal enzyme beta-galactosidase (β-gal). Reduced β-gal activity results in the accumulation of GM1 gangliosides, causing rapidly progressive neurodegeneration, as well as progressive damage to other tissues including the heart, liver, and bones. The condition may be classified into three major types: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Common signs and symptoms among all three subtypes include hypotonia, progressive CNS dysfunction, seizures, and rapid developmental regression. Currently, there is no targeted treatment approved for GM1 gangliosidosis so management is primarily supportive.
To learn more about GM1 gangliosidosis and other rare lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
