Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases

Abstract

Background: 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. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare diseases, which focused on a life-course perspective rather than a disease-specific need. 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 on Research in Rare Diseases in Ireland (PCSRRDI); Phase II, Research Prioritisation Workshop (RPW); Phase III, Follow-up Public Consultation and Prioritisation Survey (FWPCPS). Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. One thousand and fifteen statements were collected, reflecting issues and shared challenges in rare diseases. A shortlisting step by step was used to identify any statements that had received a total score of above 50% into 10-12 researchable questions or statements per the theme for the phase II workshop. Phase II was focused on three main themes: (1) Route to Diagnosis, (2) Living with Rare Disease, (3) Integrated and Palliative Care. In total, 62 individuals attended the overall workshop; 42 participated in the prioritisation sessions. A cross-section of health care professionals, researchers and people living with rare diseases were engaged at each workshop. Seventy-five individuals completed the final phase III public ranking by priority responses, and they ranked the top 15 research priorities defined by the multi-stakeholders at the phase II consensus meeting. Conclusions: This study identified priorities for rare diseases research aimed at improving the health and wellbeing of people living with rare diseases.

Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan

“…In this study, patients, family members, and researchers from several disease areas participated in a cross-disease study, and it became apparent that the difficulties faced by patients with rare diseases were often common regardless of the specific of the diseases being represented. Our results are supportive of the existing literature on the feasibility of priority setting targeted on multiple diseases [ 47 , 52 ].…”

“…In particular, the seven research topics listed under the topic title ‘particularly important research topics for strengthening future research on rare diseases’—‘impediments to daily life’, ‘financial burden’, ‘concerns about working and schooling’, ‘anxiety’, ‘pessimism’, ‘mental state specific to genetic diseases’, and ‘burden of hospital visits’—point to desirable research topics that can improve understanding and help create strategies for resolving or reducing burden. Regarding these high-priority research topics, ‘financial burden’ and topics related to psychological issues are also in line with the results of studies reported in the existing literature [ 12 , 47 ]. However, to the best of our knowledge, the presentation of the following topics as high priorities for research attention is something unique in our research results: ‘impediments to daily life’, ‘concern about working and schooling’, and ‘the burden of hospital visits’.…”

Patient involvement in priority-setting for medical research: A mini review of initiatives in the rare disease field

“…These were in the areas of pulmonary fibrosis ( 40 ), musculoskeletal diseases ( 8 ), liver glycogen storage disease ( 39 ), cystic fibrosis ( 37 ), idiopathic intracranial hypertension ( 36 ), and dystrophic epidermolysis bullosa ( 35 ). One study ( 38 ) was concerned with priority-setting across multiple rare diseases. Two studies were concerned with ultra-rare conditions with a prevalence under 1 in 50,000 ( 35 , 40 ).…”

“…Our findings also suggest that eliciting priorities from patients witd related rare diseases may be a useful strategy through which to ensure that greater numbers of patients are involved. This is particularly useful in settings where logistical barriers to participation or the small size of rare disease populations in a particular setting may be obstacles to conducting priority-setting focused around a single rare disease ( 38 ). However, the participation of patients from multiple rare diseases may shift attention away from disease-specific issues and toward identifying shared, system-level and quality-of-life-related issues.…”

“…However, the participation of patients from multiple rare diseases may shift attention away from disease-specific issues and toward identifying shared, system-level and quality-of-life-related issues. As Somanadhan et al ( 38 ) indicate, “[r]are diseases are individually unique, but collectively they share substantial unmet healtd and social care needs.” However, a risk through this approach is that some of the nuance in relation to particular conditions be lost through the process, and result in compromises to achieve consensus.…”