CA18116 - Aniridia: networking to address an unmet medical, scientific, and societal challenge (ANIRIDIA-NET)

Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime. A congenital genetic mutation causes an underdeveloped retina, cataract, glaucoma, and a progressive ocular surface disease of stem cell deficiency and loss of corneal transparency. Classified as a rare disease (ORPHA:77), aniridia is extremely challenging for the ophthalmologist, with very few effective treatments available. This stems from a lack of adequate-sized patient populations to conduct coordinated clinical and research activities, and a lack of information exchange in assessing and treating aniridia, with expertise typically limited to geographically-dispersed centers. The goals of ANIRIDIA-NET are therefore to:

1. Build a large, inclusive EU network of ophthalmologists, scientists, trainees, aniridia patient organizations, industry, and special interest groups to create linkages and a rich training ground for a new generation of trainees;
2. Improve aniridia management through evidence-based research, harmonized clinical protocols, pooling/sharing of samples and models, and consensus activities; and
3. Stimulate development of novel diagnostics and treatments for aniridia based on innovative research in regenerative medicine/stem cells, investigational drugs, gene therapy, tissue engineering, transplantation, etc.

Although a rare disease, aniridia is associated with ocular surface pathology such as dry eye, inflammation, stem cell insufficiency, nerve degeneration, and vascularization – problems common to many ocular surface pathologies collectively affecting large populations. Greater collaboration and sharing of information and resources in the area of aniridia is therefore additionally expected to have significant benefits for the treatment of larger patient populations with ocular surface disease.