Novel advanced and repurposed therapeutics for vision restoration in a group of severe rare ocular surface diseases: from validation to first clinical investigations

Novel advanced and repurposed therapeutics for vision restoration in a group of severe rare ocular surface diseases: from validation to first clinical investigations

Rare Eye Diseases (REDs) are a major cause of visual impairment and blindness in Europe, affecting patients of all ages. The RESTORE VISION Consortium identified a group of 7 REDs all affecting the cornea and ocular surface that cause severe vision impairment and blindness and have inadequate treatment options today. Onset and progression is characterised by overlapping common pathophysiologic mechanisms: defective corneal wound healing, nerve degeneration, stem-cell dysfunction and aberrant vessel ingrowth. The 7 REDs targeted are Aniridia-Associated Keratopathy, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency, Ocular Cicatricial Pemphigoid, EEC Syndrome, Ocular Graft versus Host Disease and Corneal Neovascularisation, affecting over 500k patients in Europe. Current management is often prohibitively expensive, has low efficacy and leads to debilitating side effects, pointing to a critical medical problem and area of unmet medical need. RESTORE VISION brings together actors from across the full value chain: 6 leading research institutions, 3 SMEs and a European patient organisation. We take a ground-breaking approach to improve eye health by verifying disease pathomechanisms, using cutting-edge models for each rare disease to test novel and repurposed compounds and determine drug mechanisms of action, formulating compounds as safe eye drop suspensions or subconjunctival drugs, and performing several first-in-human trials of novel therapies. New therapeutics with game-changing potential will be evaluated for the first time. Our pioneering ‘streams’ approach is based on the repurposing of 6 existing drugs and the development of 3 new compounds, all with solid preliminary data showing remarkable effects in restoring the cell physiology, immune, avascular, neural and signalling environment in the cornea. This innovative approach shortcircuits lengthy and complex regulatory and drug development processes, ensuring rapid translation into the clinic.