Enzymes are proteins that are integral to various bodily functions and, for them to work properly, these enzymes must be able to fold correctly. Genetic mutations can cause proteins to misfold, which can cause an array of symptoms and disorders. Chaperones are endogenous proteins within cells that assist enzymes in folding accurately. Chaperone therapy is a newly developed method that involves creating pharmacological chaperone drugs, which can bind to the dysfunctional enzyme in question and help it fold correctly, restoring regular enzyme activity.

Children with AGU are lacking a cellular enzyme. Gene replacement therapy (GT) can be used to deliver the working enzyme to the human body. It is a long and expensive process to develop a successful treatment. While working on GT, we funded the development of Chaperone therapy, so children with AGU can be kept healthy and the progression of disease deterioration can be stopped.