Samiah Al-Zaidy, MD, Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program, gives an overview of GM1.
As Dr. Al-Zaidy explains, GM1 is an inherited lysosomal disorder caused by mutations in the GLB1 gene. These mutations encode the lysosomal enzyme beta-galactosidase (β-gal). Reduced β-gal activity results in the accumulation of GM1 gangliosides in neurons, causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart, liver, and bones. The condition may be classified into three major types: infantile; juvenile; and adult onset or chronic. 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 so management is primarily supportive. However, Passage Bio recently announced positive interim data from the Imagine-1 trial evaluating PBGM01, a gene therapy in development for the treatment of GM1. This data was presented at WORLDSymposium 2023.
To learn more about GM1 gangliosidosis and other rare lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
