US-based clinical-stage biotechnology company Valerion Therapeutics has provided preclinical proof-of-concept results showing early validation of VAL-0417 as a potential treatment for Lafora disease, a rare and fatal genetic form of epilepsy, characterized by an accumulation of aberrant glycogen-containing deposits known as Lafora bodies, the company said.
VAL-0417 is a novel fusion protein that combines Valerion's delivery antibody linked to amylase, to uniquely target Lafora bodies present in all tissues of Lafora disease patients.
Lafora Disease, a rare, progressive, autosomal recessive neurodegenerative disorder characterized by intractable seizures, difficulty walking, muscle spasms, neurological deterioration, rapid cognitive decline, dementia, and death typically within ten years of onset, is caused by loss-of-function mutations in either the laforin gene (EPM2A) or malin gene (EPM2B) and is associated with gradual accumulation of Lafora bodies, aggregates of poorly branched, hyperphosphorylated, insoluble glycogen also known as polyglusan.
Because of the invasiveness of liver, heart, or skeletal muscle biopsies, diagnosis is usually confirmed by detecting Lafora bodies in the skin cells.
12) One area of research is currently being conducted by the National Institutes of Health to determine if a diet limited in carbohydrates will slow progression of the disease and reduce formation of Lafora bodies.