University of Kentucky College of Medicine Investigators Pursue Lafora Disease Treatment

Jul 27, 2019 | Epilepsy, Lafora Disease

Lafora disease (neurological disorder) diagnosis medical concept on tablet screen with stethoscope

University of Kentucky College of Medicine Investigators are in pursuit of a novel and promising therapeutic strategy for treating Lafora Disease, a fatal form of childhood epilepsy, has been tested on mice. An antibody-enzyme fusion (AEF), it is a first-in-class therapy for the condition. And investigators believe it exhibits the potential for treating other types of aggregate-based neurological diseases.

What is Lafora Disease?

A fatal autosomal recessive, genetic disorder characterized by the presence of inclusion bodies. Known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease is also a neurodegenerative disease that causes impairment in the development of the cerebral cortical neurons and is a glycogen metabolism disorder. Most patients with the disease don’t live past the age of 25, and death within 10 years of symptoms is usually inevitable. At present, there is no cure for this disease but there are ways to deal with symptoms through treatments and medications.

One-third of Lafora disease patients are affected by drug-resistant seizures reports Drug Target Review.

The Preclinical Study

The University of Kentucky College of Medicine team found that LD is triggered by Lafora bodies which are essentially aggregates of toxic carbohydrates that are structurally similar to plant starch. Dr. Matthew Gentry quoted that “Amylase is an enzyme that our bodies naturally secrete in saliva and in the gut to break down the starch in our food.” 

Apparently, way back in the 1970s, a study led researchers to consider that amylase could also degrade Lafora bodies. Gentry noted, “However we needed a way to get the amylase into brain cells, where the Lafora bodies are found.”

Valerion Therapeutics Partnership

Now Valerion Therapeutics has joined to help develop a novel antibody-based delivery platform, the team fused human amylase with their proprietary antibody fragment for intercellular delivery of enzyme into cells of mice genetically engineered to develop Lafora Disease.

Called VAL-0417, this fusion virtually eliminated the Lafora bodies in the mouse brains and other tissues. Gentry from the university reported “A seven-day continuous infusion of VAL-0417 directly into the brain restored normal brain metabolism in the LD mice, suggesting VAL-0417 could reverse the disease in humans.

Who is Valerion Therapeutics?

Based in Concord, MA, they are an emerging science-driven company focused on the development of biotherapeutics for orphan diseases. Formed in 2007, they have raised approximately $21 million.

Lead Research/Investigator

Dr. Matthew Gentry


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