Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.

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About

Background

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. 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.

Goals

ANIRIDIA-NET is a pan-European bottom-up network of researchers, ophthalmologist, trainees, aniridia patients organizations, industry and special interest groups funded by the European Cooperation in Science and Technology (COST) program to improve aniridia clinical management and promote innovative research and development of new alternatives for its diagnosis and treatment. The goals of ANIRIDIA-NET are therefore to:

  • 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;
  • Improve aniridia management through evidence-based research, harmonized clinical protocols, pooling/sharing of samples and models, and consensus activities.
  • 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.

Scientific Program

To tackle the challenge of improving our scientific understanding and medical treatments for aniridia and particularly aniridia-associated keratopathy (AAK), the following research coordination objectives will be implemented:

  • To identify needs and develop strategies for medical treatment of Aniridia and particularly AAK, through an inclusive group of stakeholders organized into COST Action Working Groups (WGs), where each WG identifies key needs, research and coordination tasks and objectives, and opportunities for collaboration and exchange to achieve stated tasks.
  • To optimize / combine the models (eg., Pax6 knockout/knock-in/ CRISPR in vitro models, Pax6 heterozygous mice and zebrafish, treatment/surgical models) through active collaboration across the network.
  • To coordinate and conduct individual and multicentre clinical studies (prospective, retrospective chart reviews, randomized trials) and survey-based research by combining aniridia cohorts, patient samples and biobanking for centralized sample/tissue/genetic analysis via a created network to comprise a Europe-wide platform.
  • To develop and publish harmonized statements, guidelines, protocols, and recommendations in areas relating to aniridia (eg., patient examination and assessment, treatment and follow-up, metaanalysis of outcomes, genetic testing, etc.) through regular meetings and active collaboration across the network. These will be reported primarily through international peer-reviewed publications.
  • To translate and apply cutting-edge research in stem cells, regenerative medicine, tissue engineering, new drugs and gene therapy, to common models of aniridia. Proof-of-concept studies can lead to preclinical research and first-in-man trials.

Following the research coordination objectives outlined above, ANIRIDIA-NET aims to build the following capacities:

  • To identify scientific centres with core technologies, to combine core technologies and expertise of clinicians, academics, and patient associations to bring together aniridia populations to achieve a critical mass of individuals, accessible to investigators across COST countries, for conducting multicentre clinical research related to aniridia.
  • To promote the participation of young investigators, women, and ITCs in Action leadership roles for coordinating research specific to aniridia and the anterior segment by mobilizing patient associations and medical expertise in a manner that would maximize training and exchange opportunities.
  • To make available a repository and database for aniridia, that includes pooled patient samples for research (obtained by standardized protocols to be decided), clinical examination data, genetic information, genotype-phenotype data, and patient/family information.
  • To access large libraries of synthetic and natural compounds and use high-throughput screening for novel potential molecules/drug candidates capable of stabilizing corneal stem cells and/or preventing their degradation.
  • To develop, communicate, and apply new imaging protocols and techniques for detailed characterization of the anterior segment in aniridia, using for example advanced techniques such as optical coherence tomography, meibomography and in vivo confocal microscopy.
  • To create a platform for direct dialogue between cross-sectoral groups such as patients, scientists, doctors, trainees, pharmaceutical industry and other stakeholders to exchange knowledge and experiences and promote patient-centred medical care and bench-to-bedside patient-oriented research.

Interested in joining ANIRIDIA-NET?

Information for people interested in this Action

If you are interested in the ANIRIDIA-NET Action, there are several ways of getting involved, these are summarized here.

If you want to join ANIRDIA-NET or take part in our activities, please get in touch with the Action chair or the working group leader you are most interested in.