Lafora disease (LD) is a rare, progressive, autosomal recessive neurodegenerative disorder characterized by intractable seizures, inexorable neurological deterioration, cognitive decline, dementia, and death within 10 years of onset. It is caused by loss-of-function mutations in either the laforin gene (EPM2A) or malin gene (NHLRC1) and is associated with gradual accumulation of Lafora bodies, aggregates of poorly branched, hyperphosphorylated, insoluble glycogen also known as polyglusan. LD usually begins in late childhood or adolescence. Animal studies have shown that reducing the production of glycogen in neurons can prevent the disorder. Valerion’s goal is to enzymatically degrade neuronal glycogen, preventing its aggregation and rescuing the neurons from degeneration.
VAL-0417 has been shown in vitro to demonstrate enzymatic activity against a Lafora-like starch in a cell-free assay at the University of Kentucky, a NIH-funded research center for Lafora disease. Further in vitro and in vivoexperiments have been initiated and results will be available in Q2 2017. This program will validate the platform delivery technology for use in CNS diseases.