Скачать или смотреть 2025 Cure GM1 Community Conference - Foundation-Led ICV Enzyme Replacement Therapy

GM1 gangliosides are essential molecules in the brain, helping neurons function properly. However, like
other cellular components, they must be broken down when they become old or damaged. This process
occurs in lysosomes, which act as recycling centers for the cell. The enzyme beta-galactosidase plays a
key role in breaking down GM1 gangliosides, ensuring they don’t accumulate and cause harm.

In GM1 gangliosidosis, mutations in the GLB1 gene—inherited from both parents—lead to beta-
galactosidase deficiency, preventing GM1 gangliosides from being degraded. As a result, these molecules

build up in lysosomes, causing progressive neurodegeneration. Researchers have developed
intracerebroventricular enzyme replacement therapy (ICV-ERT) to restore beta-galactosidase activity. The
enzyme is produced in mammalian cells, purified, and tested in patient cells and a GM1 gangliosidosis
mouse model. Studies show that when administered, beta-galactosidase efficiently enters cells and is
targeted to lysosomes, where it remains stable for weeks and clears GM1 ganglioside buildup. In mice,
weekly ICV-ERT dosing for 8 weeks led to widespread enzyme distribution in the brain, clearance of GM1
gangliosides, and reversal of disease symptoms. These findings support ICV-ERT as a safe and effective
strategy for treating GM1 gangliosidosis

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