About Restore Vision
Restore Vision is a project funded by the European Commission aiming to develop and test new treatments for 7 rare eye diseases (REDs).
Currently, many REDs have few treatments available which are often ineffective and cause significant side effects. To tackle this medical need, Restore Vision will create and test new treatments for 7 REDs affecting the cornea and ocular surface.
Why the 7 REDs
Rare Eye Diseases (REDs) are a major cause of visual impairment and blindness affecting patients of all ages. Research on rare diseases is challenging, as it often receives limited attention and funding. Individually, these REDs affect too few patients to justify intense research efforts, especially by pharmaceutical companies. However, together they affect a large group of patients. In Restore Vision, we have grouped these 7 REDs specifically together, as they share similar disease commonalities. This way, it allows us to do more targeted research activities that may lead us to develop novel treatments for more than 1 RED at a time.
Restore Vision focuses on:
Aniridia is a condition present from birth, in which the iris – the part of the eye that regulates how much light enters – is partly or completely missing in both eyes. It can also cause other parts of the eye to be under-developed, for example the optic nerve and the macula (the central part of the retina). Without a functioning iris, excess light can enter the eye, causing glare, light sensitivity and difficulty seeing in bright conditions.
Over time aniridia can lead to reduced vision or vision loss due to associated conditions, such as glaucoma, cataract and the Aniridia-Associated Keratopathy (AAK). The last is caused by the fact that the stem cells in the cornea are not functioning properly. As a result, the stem cells are not able to regenerate and replace old or damaged cells. This often leads to dryness and difficulty recovering from minor injuries to the eye. Eventually, the cornea may become scarred and opaque (not clear) from the migration of non-transparent conjunctival tissue and its blood vessels.
EEC syndrome affects how the body develops (already before birth). People with this syndrome may have missing or differently shaped fingers and toes, changes in the skin, hair, nails or teeth, and a cleft lip and/or palate (opening in the upper lip or roof of the mouth). The tear glands of the eye develop abnormally, leading to excessive tearing and/or very dry eyes. This can cause inflammation of the cornea. Additionally, the limbal stem cells, which are needed to keep the cornea’s surface smooth and able to repair itself, don’t function properly, which could lead to damage of the cornea.
Ocular cicatricial pemphigoid is a chronic autoimmune condition that causes recurrent inflammation of the conjunctiva (the membrane covering the eye). Fragile areas under the eye surface can form blisters. Over time, abnormal healing of the blisters can cause scarring of the inner eyelids and the surface of the eye. Additionally, new blood vessels can start growing onto the cornea. Ultimately, it can lead to vision loss.
Common symptoms include red eyes, excessive tearing, burning and/or foreign body sensation (the feeling that something is in your eye), swelling, and varying degrees of eye pain. In advanced stages, eyelids may start to stick together due to scarring.
Neurotrophic Keratopathy is a rare condition in which the cornea loses its normal sensitivity. Early stages of the disease may cause no symptoms, or mild ones – such as redness of the eye. However, while it may initially cause only a minor decrease of vision, it can eventually it lead to complete loss of vision.
Corneal neovascularisation occurs when the surface of the eye (the cornea) becomes injured. Normally, the cornea stays healthy because special stem cells continually create new cells to repair and renew it at the layer that is called the basal limbal epithelium. But severe eye burns – such as those caused by chemicals or heat – can damage these stem cells. When too few of them remain, the cornea can no longer heal properly. As a result, other types of eye cells try to repair the area, which can make the cornea cloudy and reduce vision. Ultimately, it can lead to loss of the cornea’s transparency, causing significant vision loss.
Limbal stem cell deficiency happens when the eye doesn’t have enough healthy limbal stem cells, which are needed to keep the cornea’s surface smooth and able to repair itself. Without these cells, the cornea can become damaged, inflamed, or cloudy, and new unwanted blood vessels may grow across it.
Patients usually experience red eyes, decreased vision, sensitivity to light, foreign body sensations (the feeling that something is in your eye), tearing, and pain. The condition can be present from birth, develop on its own, or occur after an event such as inflammation, infections, injuries, or other eye diseases.
Ocular Graft versus Host Disease can happen after a person receives stem cells from a donor. In this disease, the donor’s immune cells mistakenly attach the patient’s own tissues. This reaction can damage the surface cells of the eye, especially after the body has already been stressed by the treatments given before the transplant.
Drug development process
The project is looking into repurposing 2 existing drugs and developing 9 new drugs to address the REDs. These therapies are at different stages of development:
- Early research stage: These drug candidates are still being tested in the lab and in disease models. At this stage, researchers check whether the treatment works in the lab and how it works.
- Advanced research stage: These drug candidates have already shown promise, but we still need more detailed data before they can move toward testing in humans.
- Clinical stage: These drugs have been tested in humans for the first time, or are already being used in the eye for other indications. We carefully gather information about ethics, regulations, safety, and how well the eye-drop formulations are tolerated, before they move into the clinical trials.
Interested in participating?
Learn more about how you can get involved in different ways, either as a patient, caregiver, or other participant.