Table 1.
Existing opportunities for involvement identified in the literature and website review
| Type of involvement | Number of Papers | Countries | Patients and families | Patient organizations |
|---|---|---|---|---|
| Research | 33 | • Australia • Canada • Netherlands • Germany • France • Spain • United States • United Kingdom • Internationally (i.e. 2+ countries) |
• Participated as research subjects (International [132]; Denmark [133]; Japan [134]; Spain [93]; United Kingdom [94, 133, 135]; United States [35, 136]) • Set research priorities (Netherlands [137, 138]; Spain [18]) • Initiated research studies (United States [19, 57]) • Provided assistance to researchers conducting studies (Europe [139]); United States [140]) • Led research (International [53]; United States [19, 141]) • Developed or participated in research organizations/networks (Europe [142]; United States [143]) • Disseminated research-related information (International [144]; United Kingdom [54]) |
• Participated as research subjects (Europe [96]) • Set research priorities (Germany [42]; Netherlands [137]) • Initiated research (Netherlands [42]; United States [145]) • Provided assistance to researchers conducting studies (International [30, 146]; Netherlands [137]; Spain [93]; United States [19]) • Led research (Europe [45]; France [56]; Ireland [146]; United Kingdom [97]; United States [19, 24, 40, 141]) • Participated in research organizations/networks (Europe [142, 147]; Netherlands [42, 46]; United States [39, 47, 143, 148]) • Disseminated research-related information (International [144]; United Kingdom [54]) • Funded research (International [149]; Germany [42]; United States [34, 35, 40, 47, 49, 143]) |
| Clinical Trials | 8 | • Netherlands • United Kingdom • United States • Europe |
• Participation in trials [20] | • Provided assistance to researchers conducting trials (Europe [21]; Netherlands [46]; United States [21]) • Funded clinical trials and clinical trial networks (Europe [150]; United States [23]) • Established and/or participated in clinical trial networks (Europe [150]; United States [23, 24, 47]) • Disseminated information on the results of clinical trials (United States [23, 24]) |
| PROMs | 5 | • Germany • United States • Internationally |
• Submitted patient reported outcomes (PROs) in studies (International [32]) • Participated in studies to develop and validate outcome measures (International [26, 151]; Germany [27]; United States [28]) • Assisted researchers conducting studies to develop and validate outcome measures (International [26]) |
• Assisted researchers in conducting studies to develop and validate outcome measures (International [29]) |
| Registries/ biorepositories | 17 | • Sweden • United States • Internationally |
• Patients and/or families enrolled in and submitted data to registries/biorepositories (International [29, 37]; Sweden [33]; United Kingdom [152]; United States [24, 34–36]) • Provided input on registry/ biorepository design (International [32]; Europe [147]) • Involved in maintenance and/or management (Europe [153]) • Established registries (United States [41]); however, this was usually done through a patient organization |
• Established of registries (International [32]; Europe [38]; United Kingdom [152]; United States [19, 34, 39–41]) • Provided input on registry/ biorepository design (International [32]; Europe [147]; United States [154, 155]) • Involved in maintenance and/or management (International [156]; Europe [38, 153]; Italy [157]; United Kingdom [152]) • Provided funding (Europe [153]; United Kingdom [152]; United States [154]) • Recruited participants (International [32, 156]; Italy [157]; United Kingdom [152]) |
| Stakeholder relationships and collaborations | 9 | • Netherlands • United Kingdom • United States • Internationally |
• Established and maintained relationships with researchers (Netherlands [42]; United States [35]) | • Facilitated relationships between different stakeholders through charters for collaboration and hosting neutral meetings (Europe [21]; United States [47]) • Established relationships with stakeholders (e.g. researchers, industry, healthcare professionals, and other patient organizations) (European Union [96]; Italy [157]; Netherlands [42]; United States [23, 35, 40, 47]) |
| Education | 11 | • Netherlands • United States • Internationally |
• Helped to develop educational material and training programs for patients and families (Europe [43]; Italy [44]) | • Shared informational resources on various disease-specific topics (Europe [45]; Netherlands [46]; United States [22–24, 40, 47]) • Organized and sponsored formal educational activities and training programs for healthcare professionals, researchers and policymakers (United States [22–24, 34, 49]) |
| Advocacy and awareness | 8 | • Germany • United States • Europe |
• Used social media to advocate for access to experimental drugs (United States [48]). | • Advocated for drug access and coverage (United States [22]) • Advocated for research (Europe [38]; Germany [42]) • Advocated for legislation (United States [47, 49]) • Started awareness campaigns (United States [22, 47]) |
| Conferences and workshops | 8 | • Australia • United States |
• Participated in conferences and workshops, helping to identify goals and produce recommendations for a national rare diseases strategy (Australia [95]) | • Participated in conferences and workshops aimed at developing a national rare diseases strategy (Australia [95]) • Hosted and funded multi-stakeholder conferences and workshops (United States [23, 24, 34, 35, 40, 49]) |
| Patient care and support | 15 | • Italy • United Kingdom • United States • Internationally |
• Provided social support for other patients (International [53, 158]; United States [19, 140]) • Self-monitored clinical care through electronic health records (Italy [50]) • Provided clinical care support by contributing to the development of clinical practice guidelines ([51, 52] |
• Provided social support (Europe [45]; United Kingdom [22, 49]; United States [22, 40]) • Provided financial support (United Kingdom [22]; United States [22, 47]) • Provided clinical care support (Europe [38, 45]; United States [22, 34, 40]) • Provided support to patients in clinical trials (Europe [21]; United States [47]) |
| Patient organization development | 5 | • France • Netherlands • United States |
• Established patient organizations, like the French Muscular Dystrophy Organization and Chromosome 18 Registry and Research Society (France [56]; United States [19]) | • Provided advice to others on how to start an organization (United States [57]) • Established international patient organization alliances (International [156]; Netherlands [46]; United States [40]) • Further developed their organization by hosting fundraising events (United States [40]) |
| Regulatory decision-making | 5a | • Canada • New Zealand • Switzerland • United Kingdom • United States • European Union |
• Submitted PROs for consideration by a regulatory body (Canada [65]; European Union [159]; New Zealand [160]; United States [161]) • Provided input on proposed regulatory decisions/guidelines (Canada [64, 65]; New Zealand [66]; United States [67, 68]) • Served as members on advisory/decision-making committees (Canada [64, 65]; United States [67, 68]) • Provided input into assessments of benefits and harms (United States [162]) • Reported adverse events to regulators (Australia [58]; Canada [59]; European Union [60]; New Zealand [61]; Switzerland [62]; United States [63]) |
• Representatives sat on advisory/decision-making committees (European Union [69, 70]) • Provided input on pre-submission advice given to researchers regarding clinical trial protocols (European Union [69]) • Provided input on assessments of benefits and harms (European Union [60]) Provided input on plans for ongoing pharmacovigilance (European Union [60]) • Provided input on consumer information, such as labelling (European Union [69]) |
| Reimbursement decision-making | 5a | • Australia • Canada • Denmark • Germany • Netherlands • New Zealand • Ontario (CAD) • Sweden • Switzerland • Scotland • United Kingdom • United States • Wales |
Centralized review processes
• Patients submitted drugs for evaluation (Australia [75]; New Zealand [163]) • Submitted information for use in evaluations, such as the degree of perceived benefit, subjective risk assessment, or burden of associated side effects (Netherlands [71]; New Zealand [72]; United States [73]) • Participated in consultations during the review process (Ontario [74]; New Zealand [72]; United States [73]) • Served as members on advisory/decision-making committees (Canada [164]; Netherlands [71]) • Provided feedback on completed evaluation reports or recommendations (New Zealand [72]; United States [165]) • Prepared patient submissions for consideration alongside clinical and economic evidence (Australia [75]; United Kingdom [76]; Wales [77]) • Presented views during review committee meetings (United Kingdom [87]; United States [73]) • Consulted on the design of the evaluation process (United Kingdom [97]) |
Centralized review processes
• Reviewed horizon scanning reports (United Kingdom [166]) • Submitted drugs for evaluation (Australia [167]; New Zealand [163]) • Participated in consultations during the review process (Australia [168]; Germany [169]; United Kingdom [87]; Scotland [170]) • Served as members on advisory/decision-making committees (Sweden [171]; Switzerland [172]; United Kingdom [173]; United States [174]) • Prepared patient submissions for consideration alongside clinical and economic evidence (Australia [75]; Canada [175]; Ontario [74]; United Kingdom [176]; Scotland [177]; Wales [77]) • Provided feedback on completed evaluation reports or recommendations (Ontario [74]) • Launched appeals of negative funding decisions (United Kingdom [97]) • Created recommendations for the design of the evaluation process (United Kingdom [97]) |
|
Safety-net review processes
• Submitted drugs for consideration (Finland [90]) • Directly consulted during the review process (United Kingdom [87]) • Provided feedback on evaluations or recommendations (United Kingdom [87]) • Presented views during a committee meeting (United Kingdom [87]) • Submit data for use in annual evaluations for reapplications (Australia [178]) |
aIn addition to the website review