The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project

Abstract

Background The role of patients in medical research is changing, as more emphasis is being placed on patient involvement, and patient reported outcomes are increasingly contributing to clinical decision-making. Information and communication technology provides new opportunities for patients to actively become involved in research. These trends are particularly noticeable in Europe and the US, but less obvious in Japan. The aim of this study was to investigate the practice of active involvement of patients in medical research in Japan by utilizing a digital platform, and to analyze the outcomes to clarify what specific approaches could be put into practice. Methods We developed the RUDY JAPAN system, an ongoing rare disease medical research platform, in collaboration with the Rare and Undiagnosed Diseases Study (RUDY) project in the UK. After 2 years of preparation, RUDY JAPAN was launched in December 2017. Skeletal muscle channelopathies were initially selected as target diseases, and hereditary angioedema was subsequently added. Several approaches for active patient involvement were designed through patient-researcher collaboration, namely the Steering Committee, questionnaire development, dynamic consent, and other communication strategies. We analyzed our practices and experiences focusing on how each approach affected and contributed to the research project. Results RUDY JAPAN has successfully involved patients in this research project in various ways. While not a part of the initial decision-making phase to launch the project, patients have increasingly been involved since then. A high level of patient involvement was achieved through the Steering Committee, a governance body that has made a major contribution to RUDY JAPAN, and the process of the questionnaire development. The creation of the Patient Network Forum, website and newsletter cultivated dialogue between patients and researchers. The registry itself allowed patient participation through data input and control of data usage through dynamic consent. Conclusions We believe the initial outcomes demonstrate the feasibility and utility of active patient involvement in Japan. The collaboration realized through RUDY JAPAN was enabled by digital technologies. It allowed busy patients and researchers to find the space to meet and work together for the Steering Committee, questionnaire development and various communication activities. While the practice of active patient involvement in Japan is still in its early stages, this research confirms its viability if the right conditions are in place. (331 words).

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

“…These communication channels are a part of a larger network involving the practitioner community, support groups, funding agencies, and health authorities. Describe PI in the use of different dissemination channels like social media, webpages, etc Did not describe methods for assessing the impacts of PI in research dissemination Described that PI creates more opportunities for research translation when it is closely connected to the patient community affected No description of the effectiveness (cost-benefits) of PI Hamakawa et al [ 13 ] The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project Research Involvement and Engagement Japan and United Kingdom Mixed method, quantitative questionnaire and web meeting To investigate the practice of active involvement of patients in medical research in Japan by utilizing a digital platform, and to analyze the outcomes to clarify what specific approaches could be put into practice Patients with Skeletal muscle channelopathies and hereditary angioedema The number of participants not described A rare disease research platform that utilizes Information and Communication Technology (ICT) and Steering Committee meetings Several approaches for PI were designed through patient-researcher collaboration, namely the Steering Committee, questionnaire development, dynamic consent, and other communication strategies. Patients were involved in: conceptualizing, governance, software system, questionnaire, recruitment, data use, analyzing and interpretation, communication and dissemination They described that they analyzed the research process of practices and experiences on how each approach of PI affected and contributed to the research project They reported increased self-efficacy for the patients involved and believe patients expertise influence research.…”

“…All 12 primary articles were all published in English, conducted between 2012 [ 31 ] and 2021 [ 35 ], and originating from USA (n = 4), Europe (n = 4), Oceania (n = 3) and Japan (articles = 1). The studies described PI in research of different types of RDs: neuromuscular diseases [ 32 , 33 ], congenital hypogonadotropic Hypogonadism /Kallmann syndrome [ 11 ], Fontan disease [ 34 ], eosinophilic gastrointestinal disorder [ 35 ], scleroderma disease [ 36 ], vasculitis disease [ 12 ], Pachyonychia Congenita [ 37 ], skeletal muscle channelopathies and hereditary angioedema [ 13 ], and rare disease in general [ 31 , 38 , 39 ]. Both patients, patient representatives and patient organization representatives were involved.…”

“…Studies [ 8 , 11 – 13 ] indicate that Patient Involvement in Rare Diseases Research (PI-RDR) can improve the relevance of research questions, study design, methodology, recruitment rare, interpretation of data and financing. Thereby, higher likelihood of translation and adoption of research results in everyday practice as well as more effective communication findings.…”

Framework and Practical Guidance for the Ethical Use of Electronic Methods for Communication With Participants in Medical Research

“…This is especially beneficial in rare disease research because it is difficult to recruit a sufficient number of participants in geographically limited areas. As clarified by the Rare and Undiagnosed Diseases Study (RUDY) in the United Kingdom and Japan, digital platforms enable the effective recruitment of participants [ 5 - 7 ]. Additionally, the RUDY project demonstrated that digital technologies facilitate dialog and collaboration between patients and researchers [ 5 - 7 ].…”

“…As clarified by the Rare and Undiagnosed Diseases Study (RUDY) in the United Kingdom and Japan, digital platforms enable the effective recruitment of participants [ 5 - 7 ]. Additionally, the RUDY project demonstrated that digital technologies facilitate dialog and collaboration between patients and researchers [ 5 - 7 ]. This type of active patient involvement encouraged by digital tools is referred to as participant-centric initiatives [ 8 , 9 ].…”