Abstract
Background: Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. Methods: A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey(PCS); Phase II, Research Prioritisation Workshop (RPW); Phase III, Public Prioritisation Ranking Survey (PRS). The time frame for the entire study was from November 2018 to June 2019. Results: In total, 240 individuals completed the phase I, of which only 96 survey participants provided information on their background, 32% (n=31) self-identified as a person living with a rare disease(s). One thousand and fifteen statements were collected, which reflected issues and shared challenges in rare diseases. MSExcel was used to gain frequencies and percentages. Phase II was focused on three main themes (1) Route to Diagnosis (2) Living with Rare Disease (3) Integrated and Palliative Care. 42 participants engaged at each workshop. Seventy-five individuals completed the phase III prioritisation ranking survey and ranked the top 15 research priorities. The top five priorities were (1)Support at the time of diagnosis, (2) Diagnostic test for rare diseases (3)Education and training (4) Patient voice (5) Data sharing and integration of services for rare diseases. Conclusions: The research priorities identified here for rare diseases were developed jointly in collaboration with patients, families, healthcare professionals and policymakers. So, we encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases.
Highlights
Rare diseases are individually unique, but collectively they share substantial unmet health and social care needs1,2
We encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases
Participation in this study means that individuals are involved in Rare Disease research Partnership (RAinDRoP) was engaged in a meaningful way from the beginning of the process with a focus to improve the quality of the patient-focused rare diseases research and its impact
Summary
Rare diseases are individually unique, but collectively they share substantial unmet health and social care needs. It may be useful to mention that in rare disease research, that the patients are often the experts, due to the nature of the conditions, and so the greater importance of including the patient and carer’s voice in the priority setting exercise, rather than just academics and HCPs. Within the first paragraph there is repetition of some facts, such as the individual rare yet collectively common, as well as the mentioning of 7,000 rare conditions/7,000 rare diseases. It may be useful to mention that in rare disease research, that the patients are often the experts, due to the nature of the conditions, and so the greater importance of including the patient and carer’s voice in the priority setting exercise, rather than just academics and HCPs. The manuscript has been amended in light of this consideration. We encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases
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