University of Galway to lead European consortium developing treatments for rare eye diseases

Professor Thomas Ritter, Professor of Medicine at the College of Medicine, Nursing and Health Sciences at University of Galway and Science Foundation Ireland Funded Investigator at CÚRAM. Credit: Martina Regan.
Jun 26 2023 Posted: 14:05 IST

A consortium of 10 European academic, clinical and enterprise partners led by University of Galway has been formed in a special project to test new treatments for rare eye diseases.

In Europe, approximately 30 million people suffer from blindness and visual impairment. Rare Eye Diseases are a major cause that can result in blindness in children and young adults, and affect adults and the ageing population. Current management is expensive, has low efficacy, and significant side effects. 

The consortium - RESTORE VISION - aims to address this clinical need by formulating novel treatments and repurposed drugs that have been validated in different disease indications. 

The project will target seven rare eye diseases: aniridia-associated keratopathy; neurotrophic keratopathy; limbal stem cell deficiency; ocular cicatricial pemphigoid; EEC syndrome; ocular graft versus host disease; and corneal neovascularisation.

By targeting the overlapping mechanisms of these seven different conditions, the probability of discovering new sight-restoring therapies to treat ocular surface diseases is greatly enhanced.

Professor Thomas Ritter, Professor of Medicine at, the College of Medicine, Nursing and Health Sciences at University of Galway and Science Foundation Ireland Funded Investigator at CÚRAM, is leading the consortium.

“Leading this consortium is a great honour as it brings together key players in Europe on rare eye diseases to advance the field and test novel and repurposed compounds directly with the patients who need them now. Using repurposed and previously validated compounds will expedite our progress, leading to the rapid development of novel therapeutics,” Professor Ritter said.

Combined, the rare eye diseases being targeted through the RESTORE VISION consortium are estimated to affect more than 500,000 people, representing 1.7% of the total visual impairment and blindness population in Europe. 

The project combines expertise from eye disease leaders with six leading research institutions - University of Galway; Linköping University, Sweden; Ospedale San Raffaele, Italy; Universidad Miguel Hernandez De Elche, Spain; INSERM, France; University Hospital Cologne, Germany. It also involves enterprise partners with three SMEs - Cell2Cure, Denmark; Laboratoires KÔL, France; Catalyze, the Netherlands. A European patient organisation is also partnering - Aniridia Europe, Norway.

The ground-breaking approach being taken by the consortium seeks to improve eye health by verifying disease mechanisms, using cutting-edge models for each rare disease to test novel and repurposed compounds; formulating safe eye drop suspensions or subconjunctival drugs; and performing first-in-human trials of novel therapies. 

Impaired wound healing at the cornea and ocular surface; excessive inflammation; nerve degeneration; stem cell dysfunction; and aberrant vessel ingrowth are the common denominators in many rare eye diseases, representing a critical medical problem and an area of unmet medical need. 

Drugs that have been extensively tested in preclinical studies by the RESTORE VISION academic and pharma partners or treatments that are already on the market will be used in the project. This will significantly reduce the usually lengthy and complex regulatory and drug development processes ensuring rapid translation of these innovative treatments into the clinic.

Professor Neil Lagali, Linköping University, Sweden is leading the provision of specialised research models of rare disease. He said: “This is an exciting time, as our models of rare corneal diseases have now reached a level of sophistication that allows us to reliably evaluate therapeutic compounds to determine their effects in restoring the cornea’s function, using standard outcome measures that will facilitate the transition into clinical trials.”  

Aniridia Europe is a patient association that connects people with aniridia and their families all around Europe and promotes international collaboration on aniridia. 

President Barbara Poli said: “We are honoured and happy to be part of this consortium, as we consider the possibility to create a link with the researchers and clinicians as a fundamental opportunity to bring the voice and the needs of patients to those who are dedicating their work and commitment in developing new knowledge on rare eye diseases, new treatment options and the hope for a better quality of life of all patients in all countries.” 

Professor Conor Murphy, Key Opinion Leader and Professor of Ophthalmology at the Royal College of Surgeons in Ireland, said: “RESTORE VISION is a unique and ambitious project which brings together experts from a range of specialist fields to expand our understanding of a group of rare, blinding diseases of the surface of the eye. New therapeutic approaches will be developed and expedited into patient care using existing EU regulatory frameworks enabling rapid access to newly discovered treatments.”

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