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

Abstract

Abstract Background 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. Methods 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. Results 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. Conclusions 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.