Inherited Retinal Dystrophies (IRD) COUNTS is a patient led multi-stakeholder group, managed by Retina International, focused on new therapies and improved services for individuals with IRDs.
IRDs represent a group of progressive, visually debilitating diseases for which, until recently, there have been no effective treatments. They include Retinitis Pigmentosa, Usher Syndrome, Stargardt Disease, Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD), Best Disease, Cone Dystrophy, Cone-Rod Dystrophy, Achromatopsia, Choroideremia and X-Linked Retinoschisis, which are the conditions the IRD COUNTS study focuses on.
The IRD COUNTS study, part funded by Thomas Pocklington Trust, shows that in both the RoI and the UK, the impact on the wellbeing and productivity of the affected individual and their families was significant.
It found that wellbeing was responsible for the majority of IRD costs in the Republic of Ireland (RoI) where it was €16 million and the UK where it was £196.1 million. Productivity costs were the second highest cost burden due to IRDs in both the RoI and the UK, at €9.4 million, and £114.1 million respectively. Those affected by an IRD in the RoI and the UK were 55.7% and 40.2% less likely to be in paid employment than the general population. In both regions IRDs resulted in a 9.6% reduction in productivity while at work. The cost of IRDs was found to amount to £523 million in the UK and €49.5 million in the RoI, with patients and their families bearing the cost.
Crucially, the cost of these diseases is not appropriately captured by current ways of assessing these disease needs, including Health Technology Assessments and, this makes it difficult, if not impossible, for the true costs of these diseases to be assessed and leaves them vulnerable to underfunding.
Despite the realities of life with an IRD being felt every day by patients and those who support them, the effects of IRDs on national and global levels are not documented. Lack of information in this area is a majoring stumbling block for developing and getting access to clinical services and treatments, as well as for developing new treatments. There is an urgent need to gather stronger evidence on the impact of IRDs. This will support value-for-money proposals and potentially new therapies.
Launching the report at EURETINA 2019 in Paris, France, Director of Stakeholder Engagement at Retina International Dr Orla Galvin said:
“With improvements in genetic diagnosis and with novel therapies progressing through clinical trials, IRD patient registries should be developed. This study highlights the enormous burden of care for both the individuals vision impairment and their families. In both the RoI and the UK the highest costs incurred due to IRDs were attributed to wellbeing and loss of productivity, yet those affected by IRD do not regularly engage with health care providers. While this is no surprise to our community, the data allows us to demonstrate clearly that the measurements used to assess the burden of vision loss need urgent review.”