Research support activities

While the prospect of treatments for EB becomes ever more real, there will be many challenges in ensuring that developments in the science and medicine are translated into actual benefits to patients. It is important therefore, that we not only fund research but also address any issues which could slow this process. To help us in this, we make sure to keep abreast, and where possible have input into, relevant national and EU policy, legislation and regulation. We also attend meetings and conferences and stay connected with relevant external bodies. It is not possible to provide detail on all the many different areas of interest to us but some examples are as follows:

Patient registry

A properly managed database of relevant medical details for EB patients would be of immense benefit in preparation for future clinical trials, in ensuring continued excellence in medical services and for scientific research purposes. In collaboration with the Irish EB medical team, DEBRA Ireland is currently undertaking preparatory work to put in place all the necessary steps for the development of a patient registry.

Access to medicines policy

Policy relating to access to medicines is of key concern to rare disease patients. Medicines for rare diseases, or orphan medicines, as they are frequently known, can be very expensive and not always readily available. Ireland is in the process of establishing a Health Technology Assessment (HTA) process. The purpose of HTAs is to advise on whether or not a drug/treatment should be made available to patients through the health service. The decision is based on weighing up the financial cost with the effect of the drug on quality of life for the patient. With orphan medicines often being very expensive the HTA system could impact on the availability of medicines for EB patients and therefore is something that DEBRA Ireland pays particular attention to.

Rare disease policy

EB is classified as a rare disease and as such, patients are faced with particular issues and difficulties, including isolation, misdiagnosis, lack of effective treatments etc. There are many, many rare diseases however, (an estimated 6-8% of the world's population have a rare disease of some sort) and the best way to improve conditions for all rare disease patients is through strength in numbers. Together with other Irish patient organisations we are calling for a national plan for rare diseases which would help improve quality of life for all rare disease patients.