Researchers Outsmart the Immune System to Treat Rare Genetic Disease in Mice

01/30/2020

Saint Louis University researchers have identified a potential approach to treating Morquio A syndrome, a rare, progressive and debilitating genetic disease.

The research by a multi-disciplinary team was conducted in a mouse model and reported in the Journal of Clinical Investigation.

Morquio A Syndrome is an inherited metabolic disorder, in which toxic materials in the body’s cells accumulate because the body doesn’t make enough of the GALNS enzyme within the lysosomes (or the recycling bin of the cell).

The current treatment is enzyme replacement therapy, which can cause adverse side effects due to a strong immune response towards the enzyme that is administered. Researchers found that feeding mice oral GALNS before enzyme replacement therapy reset the body’s immune system to decrease the immune response towards it and to diminish the accumulation of toxic materials in the body. The therapy has not been tested in humans.

“This model could be extrapolated to other lysosomal storage disorders where the immune response hinders the effectiveness of enzyme replacement therapy,” said Adriana M. Montaño, Ph.D., associate professor of pediatrics at Saint Louis University, who led the research team.

Scientists from SLU’s Departments of Pediatrics, Biochemistry and Molecular Biology, Molecular Immunology and Microbiology, Pathology, Internal Medicine and Center for Health Outcomes Research worked together on this project.