Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members

Abstract

Patient and public involvement (PPI) in medical research has increasingly been incorporated into research policies and funding frameworks in Japan, but empirical evidence on how patients and family members perceive PPI remains limited. This is particularly important in rare disease research, where patient populations are small and involvement may depend on organised patient communities. This study explored awareness, experience, perceived benefits and barriers, and support needs regarding PPI among rare disease patients and family members in Japan. A cross-sectional online survey was conducted between December 2021 and April 2022 through two national rare disease patient network organisations. Adults with a rare disease or family members of such individuals were eligible. Of 218 responses, 212 met the eligibility criteria and were analysed. Subgroup comparisons used Pearson’s chi-squared test, with Fisher’s exact test when expected cell counts were below 5. The sample comprised 101 patients (47.6%) and 111 family members (52.4%); 172 of 209 respondents (82.3%) reported prior participation in a patient advocacy group (PAG). Prior awareness of PPI was reported by 29.7% and prior experience by 20.8%. PAG participation was the only respondent characteristic examined that was associated with awareness (33.1% vs. 13.5%; p = 0.018). Nearly all respondents identified at least one perceived benefit of PPI, most commonly advancement of disease research (84.9%). Response patterns differed between PPI-aware and PPI-unaware respondents, and between patients and family members. Compared with patients, family members more often identified advancement of disease research and incorporation of patient and public perspectives as benefits, lack of knowledge about medical research as a barrier, and educational opportunities for patients and families as a needed form of support. Prior PPI awareness was limited, and PAG participation was the only respondent characteristic examined that was associated with awareness. Patients and family members showed somewhat different perceptions, with family members more often emphasising both the value of PPI and the need for educational support. Meaningful PPI in rare disease research requires not only formal promotion but also practical infrastructure, including public information, education, and support for PAGs, to make involvement feasible and sustainable. When patients and families help shape medical research, the research is more likely to reflect what matters to them. This is called patient and public involvement, or PPI. In Japan, interest in PPI is growing, but little is known about how people affected by rare diseases understand it, or what support they need. A total of 212 people living with a rare disease or family members of someone with a rare disease completed an online survey. The survey asked about awareness and experience of PPI, its possible benefits and difficulties, and the support needed to promote it. Most respondents had not heard of PPI. However, people who had taken part in a patient advocacy group were more likely to know about it. Almost all respondents saw benefits of involvement, especially for advancing research into their disease. Family members were more likely than patients to see PPI as a way to advance research and incorporate patient and public perspectives. They were also more likely to view a lack of knowledge about medical research as a barrier. Rare disease patients and families see value in PPI, but many are not yet familiar with it. Meaningful PPI needs practical support, including accessible information, learning opportunities, and stronger support for patient advocacy groups.