Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions

Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, patient involvement in rare diseases research (PI-RDR) is scarce. The aims were: To study the Norwegian researchers` experiences and perceptions of PI-RDR and review the literature on PI-RDR. Methods 1. A systematic scoping review of the literature on PI-RDR. 2. A cross-sectional questionnaire study with close-ended and open-ended questions to investigate the researchers` experiences. Results In the scoping review 608 articles read in full-text and 13 articles (one review and twelve primary studies) were included. The heterogeneity of the design, methodology and results was large. Most studies described several benefits of PI, but few described methods for measuring impacts and effectiveness of PI-RDR. In the cross sectional part of this study, 145 of 251 employees working in the nine Norwegian Centers on Rare Diseases participated, of these 69 were researchers. Most (95%) of the researchers claimed that rare diseases research is more challenging than for the more common diseases. The majority (95%) argued that PI-RDR may increase the quality of the studies and the relevance, and most (89%) agreed that PI-RDR in dissemination may increase the awareness and public interest for rare diseases. In the open-ended questions several researchers also claimed challenges related to PI-RDR, and many had proposal for improving PI and promotion of rare disease research. Conclusion Both the literature and researchers emphasized that PI-RDR is important for improving research quality and increase the public attention on rare diseases, but what constitutes effective PI-RDR still remain unclear. More research on the design, methodology and assessment for measuring the impact of PI-RDR is warranted.