AAK-INSIGHT: Aniridia – Novel therapeutic tools to treat or prevent progressive cornea opacification

The objective of our project is to develop a therapeutic strategy for patients suffering from progressive loss of the cornea’s transparency leading to blindness. Aniridia is a rare, inherited disease caused by mutations in the PAX6 gene, which fails to properly produce a protein essential for normal eye development and function. Today, there is no effective treatment for this blinding disease, resulting in severe vision loss and developmental problems from infancy and throughout life. We have recently identified three drugs that are already approved for treatment of unrelated disorders and our data strongly suggest that repurposing these therapeutic molecules could be effective in preventing or treating existing blindness by restoring corneal transparency. AAK-INSIGHT combines EU partners with complementary expertise, advanced tools and relevant disease models to validate selected drugs along with gene therapy to reverse the phenotype of this rare disease. We will test these therapeutic candidates in diverse cellular models we have developed or isolated from patients and also in purpose-designed mouse models. Our efforts focus on identifying of the mechanism by which these molecules act on PAX6 in corneal cells. The present opportunity to bring together European experts allows for the first time the study of potential therapeutic tools in the same cellular and animal models, aiming eventually to treat aniridia patients by drug repurposing. Our aim is to progress on the translation of novel therapeutics for use in future clinical trials.