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Table 1 Existing opportunities for involvement identified in the literature and website review

From: Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping 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, 34,35,36])

• 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, 39,40,41])

• 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 [22,23,24, 40, 47])

• Organized and sponsored formal educational activities and training programs for healthcare professionals, researchers and policymakers (United States [22,23,24, 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])

  1. aIn addition to the website review