A rare disease is defined as a prevalence of less than 1 in 2000, and while individually these may be rare, collectively they have a significant impact upon the health and economy of the population at large. It is estimated that 300,000 people in Ireland are affected by a rare disease. The Rare Diseases Office and Health Research Charities Ireland have identified research into rare disease as a health priority. According to the clinicaltrials.gov registry, in the last five years 48 trials in rare diseases (excluding cancers) have been conducted at Irish sites and only 2 of these were academic investigator led studies. There are multiple obstacles to conducting trials in these cohorts, including limitations on resources, constrained investigator time and lack of knowledge in the rare disease trial design and methodology. Moreover, there is a lack of clarity on specific patient population numbers and eligibility, together with poor public and patient awareness of ongoing research or potential trial involvement.
The Rare Disease Clinical Trial Network will continue to work with the European Reference Network (ERN) for Rare Diseases clinical sites in Ireland to increase the availability of clinical trials for this underserved population and to include participants in research who have hitherto been excluded. The specific aims of this network are to: Aim 1) to facilitate and support academic investigators from within and outside Ireland in conducting clinical trials in rare diseases and to establish and augment partnerships with industry to increase rare disease trial conduct in Ireland; Aim 2) to provide infrastructural support by provision of regulatory documents and establishment/management of a database of rare disease patients in Ireland linked to the European Reference Network sites; Aim 3) to expand the involvement of patients, their families and members of the public in the design and conduct of trials in rare disease; Aim 4) to educate and train researchers and investigators in rare disease trial conduct and explore/research methodological approaches to rare disease trials in order to optimise recruitment, retention and relevance of research outcomes to patient priorities.
The establishment of the Rare Disease Clinical Trial Network will result in an increase in patient engagement, more trial opportunities for previously neglected populations, increased opportunity for investigator-initiated trials, significant industry investment into Irish healthcare, enhanced knowledge of rare disease through patient focused research and parallel translation scientific studies. Through the significant PPI engagement in the design there will be major involvement of patients informing the prioritization and conduct of studies. This network through its training, education and infrastructural/database supports will enable it to be self-sufficient in the future and foster future investigators to participate in and design trials for rare disease patients in Ireland.
