Table 3 Data extraction from included publications on patient involvement in research and research dissemination
Publication details First author Publication year Title Journal Country | Publication information Study design Aim of the study | Patient involvement (PI) in the study Patients’ condition(s) Number of rare disease patient representatives in the project Context/ organization of patient involvement | Description of patient involvement in the rare disease research (PI-RDR) Methods for PI in the study Methods for evaluation of the impact of PI Impact of PI Reported effectiveness/cost benefits of PI | Description of patient involvement in rare disease research dissemination (PI-RDRD) Information about PI-RDRD (yes/no) Methods for PI-RDRD? Methods for evaluation of PI-RDRD? Impact of PI-RDRD Effectiveness (cost-benefits) of PI-RDRD |
Review article | ||||
Forsythe et al. [8] A systematic review of approaches for engaging patients for research on rare diseases J Gen Intern Med USA | Systematic review, without quality assessment To summary evidence of involving patients and other stakeholders in research of rare diseases, included the role of the patients-organizations of rare disease have in promoting patient centered research | The review was guided by a multi-stakeholder technical expert panel (TEP) composed of patient representatives (no details on numbers and diagnoses), clinicians, and researchers recruited through the informal professional networks of the authors Review performed by the Patient-Centered outcomes research institute | Including different literature (n = 36) on PI in rare disease research, of these two [31, 37] fulfilled the inclusion criteria in this present study Patients were most commonly engaged in the preparatory stage for agenda setting (19 studies), study execution for study design and procedures (15 studies), for recruitment (12 studies), for data collection 6 studies. 19 studies described PI at multiple stages The review concludes that: No studies empirically evaluated the effect of patient engagement on the design, conduct, dissemination, or relevance of the research Many studies reported perceived impact of engagement that was not measured and could not be confirmed | Ten of the included studies reported PI in research dissemination The review concluded that there is limited information on how PI influence the dissemination and implementation of research results and influence the use of different dissemination channels Methods for assessing the impacts of PI were not described The study summarizing that several studies reported impacts of PI The review conclude that none of the included articles in the review had empirically evaluating the effect of PI in research dissemination |
Primary articles | ||||
Ambrosini et al. [32] “Be an ambassador for change that you would like to see”. A call to action to all stakeholders for co-creation in health care and medical research to improve quality of life of people with a neuro-muscular disease Orphanet Journal of Rare Diseases Italy and other European countries | Quality design with descriptive workshop report To report on a workshop to investigate the position of the neuromuscular patients community with respect to healthcare and medical research to identify and address gaps and bottlenecks | Patients and patients representatives with neuromuscular disorders, but also experts, industry and regularly bodies) 45 participants, but no detailed information on how many patients/ representatives Workshops—in Milano | Shared decision making- in discussions. Partnership-based identification -of wishes and needs of all stakeholders The ladder of participation tool- served as a model to evaluate the actual and desired level of patients’ involvement in all topics addressed.- the extent of the patients power to determining the end product- varying from a continuum of controlling- collaboration—consulting and—information) A consensus of the outcomes of the meetings was collected during the final plenary session Several examples were presented during the workshops showed that PI improve collaboration, compliance and commitment Did not describe the effectiveness (cost-benefits) of PI | No information on research dissemination in this articles |
Badiu et al. [11] "Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism" Orphanet Journal or Rare diseases Switzerland, Belgium | Qualitative design with participatory research study To engage patients as partners to create high-quality Patent Education Material (PEM). Include evaluation the readability of PEM end end-user acceptability, as well as to disseminate these materials widely across different countries and cultures | Patient representatives with Congenital hypogonadotropic hypogonadism (CHH) /Kallmann syndrome No detailed information on how many patient representatives The PEM development was an iterative process involving multiple stakeholders including patients, patient support groups, clinicians and researchers spanning the fields of endocrinology, andrology, nursing and genetics | A community based participatory research framework was used to co-create PEM with patients; working in network groups for creating topics and consensus statement. Focus groups contributed to list of frequently asked questions, recurrent in social media and chat rooms, online evaluation of readability and acceptability, translation and cultural adapted to native speakers in different European countries Did not describe methods assessment of the impact of PI Describing that PI in co-creating patient-education material improved the understandability and actionability. PI enabled to create patient education materials that met patients-identified needs as evidenced by high end-user accessibility, understandability and actionability. Combining dissemination via traditional health care professional platforms as well as patient-centric sites can facilitate broad uptake to cultural adaptations Did not describe the effectiveness (cost-benefits) | Yes, describe PI In dissemination Expert clinicians, researchers and patients co-created the materials in a multi-step process. Six validated algorithms were used to assess reading level of the final product. Comprehensibility and actionability were measured using the Patient Education Materials Assessment Tool via web-based data collection No, the study do not describe methods for evaluating the impact of PI in research dissemination Describes the impact of PI on the use of different dissemination channels and that PI were important for translating into 20 languages. They concluded that “We believe that partnering with expert patients was an empowering experience and provides valuable contributions for developing patient-centered approaches to care” Did not describe effectiveness (cost-benefits) of PI |
d’Ùdekem et al. [34] Involvement of patients and parents in research undertaken by the Australian and New Zealand Fontan Registry Cardiology in the Young Australia | Qualitative design descriptive reporting of experiences To describe the involvement of stakeholders in the development of the New Zealand Fontan registry | Patients and parents to children with Fontan circulation involved in the registry steering committee Number of patient representatives not described Registry created in at tight relationship with multiple stakeholders in the field of adult and child congenital heart disease in Australia and New Zealand | Have developed a model for PI, and describe different arenas PI research: Participation in the registry steering committee, creating of website and a Facebook page with updates and stories, meetings at Fontan education day, creating Advisory Committee-an advocacy group and web communication platform Did not describe methods for assessment the impacts Several benefits of PI: Safeguarding the project, control the messages given to families, adjust investigation and study feasibility, building a community, giving ideas for mew research, Increase participation rate, Increase research translation No description of the effectiveness I (cost-benefits) | Yes, describe PI in dissemination Describe how PI allowing early dissemination of research findings by multiple channels of communication. The focus was not only to provide information but also to give a voice to this community and include them as researchers. 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. They claimed that the research outcomes potentially provided better treatment/healthcare | Communication including dissemination of the progress and results of the research Practical methods for communication, using social media to increase the study external profile, help engage patients, building Web-sites and developing a Patient Network Forum Did no described methods for assessing impact PI reported to increase the use of a variety of communication strategies, including the Patient Network Forum, the website and newsletters Did not describe the effectiveness (cost-benefits) |
Landy et al. [31] How disease advocacy organizations participate in clinical research: a survey of genetic organizations Genetic in Medicine USA | Quantitative cross-sectional study, with study specific questionnaire To examine how patients and patient organizations are involved in research of how the deliver | Not specified diagnoses other than that they were genetic or chromosomal in origin Leaders in 104 of 206 (62%) patients’ organizations of rare genetic conditions answered the questionnaire Invited through the Genetic Alliance`s Disease InforSearch | Description of PI in study design (56%), in recruiting (91%), data collection (75%), in preparing a research report (44%), and research analyses (37%) A questionnaire for reporting the experiences and feeling of the impact of PI-RDR(D) Leaders felt they had substantial and positive effect of PI, 65% felt that they had increased the amount of research relevant for their condition, 58% felt that PI had increased participation rates “a lot”, 48% reported PI-RDR as extremely important activities 68% felt their involvement in clinical research had increased the amount of research on their condition | Most Patient-Organizations reported that they had an active role in dissemination of research Patients were involved in different dissemination activities: 89% by web site or newsletter, 60% supported or organized scientific conferences, 31% reported helping disseminating through the press, and 30% had presented at scientific conferences Did not describe methods for assessment of impacts Did no describe any impacts Did not describe the effectiveness (cost-benefits) of PI |
Lochmüller et al. [33] The position of neuromuscular patients in shared decision making Report from the 235th ENMC workshop: Milan, Italy, January 19–20, 2018 J Neuromuscul Dis Italy, and other European countries | Qualitative design with descriptive workshop report To report on a workshop to investigate the position of the neuromuscular patient community with respect to research settings: Level of PI in medical research for neuromuscular diseases: (i) registries and biobanks; (ii) clinical trials; and (iii) regulatory processes | Patient representatives with neuromuscular disorders 35 participants, but no detailed information on how many or which diseases Workshops including 35 participants mainly representing the patient community (also experts, industry and regularly bodies) | Works-shops with “Partnership-based identification” -of wishes and needs of all stakeholders. Patients were involved discussion of issues related to quality of life using the Shared decision making model, involved in discussion of registry and biobanks, clinical trials design. regularity and developing of Informed consents The ladder of participation tool- served as a model to evaluate the actual and desired level of patients` involvement in all topics addressed. A consensus of the outcomes of the meetings was collected during the final plenary session. Discussion and reflection between researchers and patients about benefits and the Description of method for measuring PI as evaluation and discussion in the process Several examples were presented during the workshops showed that PI improve collaboration, compliance and commitment. PI in fundamental to address what really matters, and creating awareness and engagement Did no describe effectiveness of PI, but described needs for improvements in order to facilitate higher patient involvement in research. Including three types of improvements (i) Educational changes; (ii) Cultural changes, and (iii) Structural changes | Only minimal description of PI in research dissemination |
Merkel et al. [38] The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network Orphanet Journal of Rare Diseases USA, international Network groups | Quantitative cross-sectional study with online questionnaire To outline the roles patients and patient advocacy groups (PAGs) play in the rare diseases clinical research network (RDCRN) and reports on the PAGs impact on the Network`s success | No detailed information on diagnoses Representatives from 28 of 76 patient advocacy groups (PAGs) associated to RDCRN participated., and researchers from 17 Research consortium in RDCRN participated Principal Investigators (PIs) from the 17 RDCRN Consortia and 28 representatives from 76 PAGs affiliated with these Consortia were contacted by email to provide feedback via an online RDCRN survey | Different approaches, 82% provided patients with education 89% PAGs reporting participating in protocol review, study design, consortium, conferences, attending consortium meeting. Responding PAGs reported PAG participation in protocol review, study design, Consortium conference calls, attending Consortium meetings, or helping with patient recruitment Did report using two survey of the researchers and the PAGs perception of the impact of PI The most frequently cited benefits of PIs were help with patient recruitment for RDCRN studies (73%), communication of Consortium activities within the patient community (40%), and providing direct funding to the Consortium (27%), participation in Consortium conference calls (54%), inclusion in Consortium activities (50%), and help with patient recruitment for RDCRN studies (46%) Did no describe effectiveness of PI (cost–benefit) of PI | PI in dissemination were described 96% were involved in disseminate information about Consortium activities within the patient community via their PAG websites, newsletters, and other forms of communication. 86% of PAGs include updates for their associated Consortium during their PAG- meetings. Most PAGs (82%) also provide patients with educational materials related to Consortium activities Methods for measuring the levels of involvement were described PI entailed more use of different dissemination channels such as social media, newsletters and other mean Did not describe the effectiveness (cost-benefits) of PI |
Nunn et al. [35] Involving people affected by a rare condition in shaping future genomic research Research Involvement and Engagement Australia and New Zealand | Mixed method design with participatory action research To report the process, experiences and outcomes of involving people in genomic research in a standardized way, in order to inform future methods of involvement in research co-production | Patient representatives from an Australian patient organization for Eosinophilic gastrointestinal disorders was involved in co-design of the study 26 participated: 15 participated in the online discussion and 12 completed the follow-up survey > 18 years) Recruitment: Online community hosted by an Australian based rare disease charity | Patients were part of the study team and gave feedback on the proposed study design, involved in a number of tasks including reviewing and improving the written information, online survey questions, and the facilitation plan for the online discussion Describes methods for evaluating PI in research: ‘Standardized Data on Initiatives (STARDIT)—can be used to plan, report and evaluate involvement in research, including impact. An online survey before joining a two-week facilitated online discussion, followed by a second online survey Pi was reported to change the study design, including improving language used in recruitment and learning resources The effectiveness (cost-benefits) not reported | Very little information about PI in research dissemination Patients are involved in dissemination Did not describe methods for assessing impact Reported improved written information and more use of alternative channels for dissemination Assumed that PI made educational materials more useful and that patients wanted to be involved in further parts of the research process, like co-authoring scientific papers |
Pinto et al. [39] The involvement of patient organizations in rare disease research; a mixed method study in Australia Orphanet Journal of Rare Diseases Australia | Mixed method study: analyses of the Patient organization web-sites, online web-based questionnaire and qualitative individual interviews To describe the characteristics of Australian RDPOs; evaluate their research ambitions and modes of involvement in research; and discuss the challenges that Australian RDPO leaders identify with their efforts to contribute to research | Diagnoses not described Leaders of 61 (of 114) Australian rare disease patient organizations answered questionnaire and 10 participated in interviews Centre for health Equity School of Population and Global Health, University of Melbourne, Australia were responsible for the study. They reviewed 112 RDPO websites, conducted an online survey completed by 61 organizational leaders, and interviewed ten leaders and two key informants | 92% of the leaders reported that supporting research or promoting research was an important goal for the organization. 95% had also had undertaken research activity such as: financing, lobby A questionnaire survey was used for evaluating the impact of PI PI may improve lack of financial resources, lack of interest on rare diseases, increase the recruitment rate and registry. Therefore important that researchers must work with Patient-Organizations The study reported that PI is important and could help advance scientific knowledge and therapy, thereby alleviating the personal and societal burden of RDs | Described PI in research dissemination 78% reported being involved in disseminated of research, such as doing it available at the web site RDPO websites showed that leaders had compiled information about PI in current research projects and findings PI had increased the use of more relevant research dissemination channels Interviewed leaders gave examples of how this information had led organizational members to develop ideas for further research, which they then used in discussions with researchers or as a basis for awarding research funding |
Roennow et al. [36]. Collaboration between patient organisations and a clinical research sponsor in a rare disease condition: learnings from a community advisory board and best practice for future collaborations BMJ Open International collaboration | Qualitative design with communication of experiences To share our experiences from such a collaboration undertaken surrounding the SENSCIS® clinical trial (NCT02597933), and discuss its impact during, and legacy beyond, the trial | Diagnosis: scleroderma / systemic sclerosis 15 patient representatives from Scleroderma patient associations from 10 countries Describes establishment of a community advisory board (CAB): a transparent, multiyear collaboration between the scleroderma patient community and a clinical research sponsor | A community advisory board was established where patient offer their expertise to clinical research sponsor to discuss overall program development. -The board reviewed and provided advice on trial conduct and reporting. outcomes of the collaboration in three areas: the implementation and conduct of the clinical trial; analysis and dissemination of the results; and aspects of the collaboration not related to the trial Did not described the methods for assessment of the impacts of PI They reports that PI led to improvement and optimization of trial procedures; meaningful, patient-focused adaptations were made to address challenges relevant to scleroderma-associated interstitial lung disease patients Did no described efficacy (cost-benefits) of PI | Written lay summaries were developed by the trial sponsor with valuable input from the CAB to ensure that language and figures were understandable and accessible to lay audiences and patients The CAB and the CRS also collaborated to co-develop opening tools for medication blister packs and bottles No description of assessment for measuring impact, but presented shared learning and discussions PI was reported important for raising awareness among physicians’, patients and caregivers, educational materials to improve diagnosis and management of scleroderma were co-created and delivered by the CAB and CRS Did not describe effectiveness (cost-benefits) of PI |
Swartz et al. [37] Pachyonychia Congenita Project. A partnership of Patient and Medical Professionals Journal of Dermatology Nurses Association USA | Qualitative approach by involving patients in collaborating groups, to transform the researchers and clinicians understanding of PC and in symptoms A PC-project was set out to eliminate the barriers of isolation by creating an international collaborative network of patients, medical professionals and scientist to be a catalyst to find effective treatments for the disease | Patients with Pachyonychia Congenita (PC) The number of participants not described PC- project Using Web site, web-meetings, registry and databases, PC project has connected researchers’ interest in PC | Description of how to help patients find out what work for them. Patients report into a PC Wiki section available on the Web site, and tthrough Web site both patients and medical professionals can stay informed about opportunities to participate in educational meeting, Webinars and clinical trials. Patients contributed with personal stories, provided physician consultation, genetic testing through the International PC Research Registry Did not describe the methods for measuring the impact, but the professionals described how and what they had learned by PI Through this collaboration, researchers have made several discoveries that have transformed the understanding of the condition and treatment. Description on how the project launched its first annual PC Awareness Day in 2012 to begin connecting and empowering the PC patient community in its support of public awareness Did not describe the effectiveness, but could help better outcome for patients | Did describe PI in dissemination Describe PI in the use of different channels for dissemination such as educational meeting, webinars, developing a Web-site with the latest news, extensive images, a complete bibliography of scientific articles, patient education brochures, annual report,, including a Facebook page No description of assessment for measuring impact of PI PI entailed more comprehensive us of different communication channels PI in dissemination could increase the empathy and understanding of rare diseases in the general public, and thereby develop a more supportive environment for those experience rare diseases |
Young et al. [12] Patient involvement in medical research: what patients and physicians learn from each other Orphanet Journal of Rare Diseases USA | Qualitative study with observational and qualitative individual telephone interviews of patients participated in VPPRN governance since 2014, and observational study This project examined the recently formed Vasculitis Patient-Powered Research Network (VPPRN), a rare disease research network, to better understand what investigators and patients learned from working on research teams together | Diseases with vasculitis disease 13 patient-partners with vasculitis disease participated, in addition 5 study mangers/staff, 4 MD or PhD investigators, Research observational notes from 6 in-persons and 42 telephone /web conferences meetings This qualitative study examined the results of 18 months of data collection for a project, funded by the PCORI | The patients were involved in all stages of the research projects description of how patient-partners and investigators characterized their working relationships with one another, what they learned from their collaborations, and provided recommendations for future teams of patient-partners and investigators The study used comprehensive methods for measuring and analyzing PI, using Interviews, in-person-meeting, observations, notes and telephone interviews They claimed that direct engagement in research design and development by patient-partners can result in a positive and productive working relationship for all members of a medical research team. This bi-directional engagement directly benefits and impacts research design, participant recruitment to studies, and study subject retention. Major themes included the great benefits of communicating about activities, being open to listening to each group member, and the importance of setting reasonable expectations Did not describe the effectiveness (cost-benefits) of PI, but claimed that network of patients can influence future research projects, review plans, ideas, and protocols for research studies, and to generate ideas for future research endeavors | Minimal description of PI in research dissemination The teams examined had goal of creating a network of patients to participate in further research studies Did not describe assessment for measuring impact of PI Did no reported impacts Did not describe effectiveness (cost-benefits), but claimed that PI can improve the effectiveness of dissemination |