Life with EB in Ireland

• Primary Researcher: Dr Darragh Flannery
• Institution: Kemmy Business School, University of Limerick
• Type of EB: All EB types
• Funding amount: €18, 658
• Project length: 1 year

This study developed the following key findings on completion:

• Studies have shown that people with EB exhibit higher than average frequencies of psychiatric symptoms. For example, depression has a prevalence of 63.6% among people with EB compared to 10.1% for the general population. Despite this, there is relatively poor access to mental health services for those affected by EB.
• The literature also revealed that quality-of-life for people caring for someone with EB is significantly lower than the control adult population. For example, in the UK the average EQ – 5D index for carers is 0.696, 21.4% lower than the average adult.
• Further analysis of the available literature gives an estimated total economic burden for EB of €130,021 per person, per year. More research into the economics of the condition is needed.
• Relative to other sampled countries, people in Ireland have poorer access to dressing materials. Other countries have national bandage schemes or support access to cheap bandaging materials for people living with all severities of EB.
• Access to dental care is an issue across multiple countries, including Ireland, and people with EB can be required to travel long distances to receive care in specialist treatment centres.
• Access to medication and medical equipment was good across the sampled countries, but access to equipment can depend on the severity of the disease.
• Similar to other countries, challenges remain in the provision of home nursing care in Ireland, such as the lack of a contingency plan when nursing staff are unavailable, and a lack of nurses trained in EB to replace those who move on. Access to respite care is an issue that arose across all the sample countries.
• Care is available for people with EB through specialist clinics. However, it can be difficult for people to access additional services crucial to their wellbeing, such as physiotherapy and occupational therapy, in the community.

Dr. Darragh Flannery is an Associate Professor in economics at the University of Limerick. He completed his doctoral studies at the National University of Ireland, Galway on the Economics of Higher Education. Darragh’s research focuses on using applied micro-econometric methods to examine policy issues in education, and more recently in health economics.

More specifically, he has conducted research in areas such as student loans, geographical and socioeconomic influences in higher education participation, student mental health services and the returns to education. He has published his work on these issues in journals such as Economics of Education Review, International Journal of Educational Technology in Higher Education, Studies in Higher Education, Oxford Economic Papers, Empirical Economics, Manchester School and Applied Health Economics and Health Policy.

He has worked on a number of different research projects in the education and health space including an examination of single-sex schooling and academic performance, the economic costs of the rare skin disease Epidermolysis Bullosa and the impacts of international student mobility on labor market outcomes. The latter project forms part of EU COST Action CA20115; European Network on International Student Mobility.

Brian Downes is an economics researcher and lecturer from Kemmy Business School, University of Limerick. He holds a BSc in Microbiology and an MSc in Economics.

Sarah Mullins is the Research Officer in Debra and Joanna Joyce is the former Head of Advocacy at Debra. They both collaborated with the researchers in UL on this project to ensure it met the needs of the EB community.

Grant Title: Life with EB in Ireland: An international review of quality-of-life and comparison of access to healthcare resources and government supports.

Epidermolysis Bullosa (EB) is a group of rare, genetic skin fragility disorders. Any friction to the skin, both internally and externally, can cause painful skin blistering, chronic wounds, and fibrosis. EB is caused by mutations in genes that code for different proteins responsible for binding the skin together. Currently, there is no cure for EB and limited treatment options.

This research study was performed by Debra Ireland and the Kemmy Business School at the University of Limerick, Ireland. The study reviews the impact of EB on quality-of-life and considers access to healthcare resources and government supports internationally, to identify areas where access to EB supports and services in Ireland can be improved in the future. To achieve this, the research team conducted (a) an in-depth literature review of the existing international evidence relating to the quality-of-life and economic burden of EB, and (b) a comparative review of access to healthcare resources and government supports across Spain, Australia, Ireland, the UK, and Austria.

This research highlights the need for increased psychological supports for those impacted with EB. Those living with EB had higher than average frequencies of psychiatric symptoms, and their carers reported a lower quality of life than the control adult population. This study also generated several recommendations on how government and national healthcare schemes can best support those with EB, reducing the economic burden of the disease and improving quality-of-life. Access to various healthcare resources is challenge across the sample countries, however, a lack of EB respite care is a commonality amongst all countries in the research. Overall, this study demonstrated gaps in EB services across all sample countries.

In this application we will test the utility of drug combinations which target signaling pathways and molecular mechanisms driving chronic inflammation and fibrosis in epidermolysis bullosa. The main intent of the proposed work is to test synergy of these agents in appropriate animal models.

We have observed that three distinct drug classes reduce the severity of chronic inflammation and/or fibrosis in diverse experimental settings. These compounds are the kinase inhibitor trametinib, which selectively targets the mitogen-activated protein kinase MEK, the angiotensin receptor 1 (AT1R) inhibitor losartan and the synthetic triterpenoid RTA408 which exerts cytoprotective and anti-inflammatory effects including Nrf2-dependent expression of antioxidant enzymes and inhibition of IL- 1beta processing. These pathways may be of relevance to chronic wound healing and inflammation in RDEB.

Trametinib and losartan are FDA-approved for other applications whereas RTA408 is currently in clinical development for indications other than blistering diseases. Thus far, the three compounds have been used as single agents only. The main goal of this application is to test, in the Lambc(jeb) and collagen VII hypomorphic EB models, whether combining the three drugs will improve therapeutic efficacy while reducing the risk of adverse events associated with the long-term use for prevention and treatment of fibrosis.

• The following recommendations are based on the findings of this research, alongside recommendations of the Rare Disease Taskforce1 and those set out in Debra’s 2024 pre-budget submission.
• EB is a serious, chronic, incurable condition and, in line with advice from the Rare Disease Taskforce (2020), as such it is recommended that EB should be included in the Long-Term Illness scheme.
• In line with countries such as Australia, funding for an EB-specific bandaging and dressing material scheme should be provided. Under such a scheme, a monthly supply of approved dressings would be delivered directly to a person’s home. An initial estimate based upon the Australian National Epidermolysis Bullosa Dressing Scheme (NEBDS) suggests that €400,000 in funding per annum would be required to run a similar scheme in Ireland.
• It is recommended that extra funding should be provided to help appoint a clinical psychologist dedicated to supporting adults living with EB. This funding has been estimated in the Debra pre-budget submission for 2024 at €80,000 per annum.
• The provision of regular, reliable home nursing care for those living with more severe EB should be significantly enhanced. The Debra pre-budget submission for 2024 calls for a ringfenced fund of €580,000 per annum to ensure people with EB can access secure and flexible care packages that adapt as their needs change over time.
• Greater research into the quality-of-life of people living with EB in Ireland should be undertaken.