ArticleOrphanet journal of rare diseases2017
Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed.
- Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members.Research involvement and engagement · 2026Article
- International practices, barriers, and enablers for patient and public involvement in pricing and reimbursement decision-making: a mixed-methods study.Frontiers in pharmacology · 2026Article
- Global research on patient involvement in health technology assessment: a bibliometric analysis.Global health research and policy · 2025Article
- Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study.JIMD reports · 2024Article
- Evaluating the benefit of early patient and public involvement for product development and testing with small companies.Health expectations : an international journal of public participation in health care and health policy · 2023Article
- How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis.Orphanet journal of rare diseases · 2023Review
- Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases.Orphanet journal of rare diseases · 2022Article
- Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.Orphanet journal of rare diseases · 2022Article
- Patient engagement strategies for adults with chronic conditions: an evidence map.Systematic reviews · 2022Article
- Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.Orphanet journal of rare diseases · 2022Article
- Ethical challenges for a new generation of early-phase pediatric gene therapy trials.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- The urgent need to empower rare disease organizations in China: an interview-based study.Orphanet journal of rare diseases · 2020Article
- The implementation of health technology assessment principles in public decisions concerning orphan drugs.European journal of clinical pharmacology · 2020Review
- A review of reviews on principles, strategies, outcomes and impacts of research partnerships approaches: a first step in synthesising the research partnership literature.Health research policy and systems · 2020Review
- The role of patient organizations in the rare disease ecosystem in India: an interview based study.Orphanet journal of rare diseases · 2019Article
- The Case for the Use of Patient and Caregiver Perception of Change Assessments in Rare Disease Clinical Trials: A Methodologic Overview.Advances in therapy · 2019Review
- A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers.Health expectations : an international journal of public participation in health care and health policy · 2018Article
- Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study.The patient · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
backgroundPatients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i.e., orphan drug lifecycle).
methodsA scoping review was conducted using methods outlined by Arksey and O'Malley. To validate the findings from the literature and identify any additional opportunities that were missed, a consultative webinar was conducted with members of the Patient and Caregiver Liaison Group of a Canadian research network.
resultsExisting and proposed opportunities for involving patients, families, and patient organizations were reported throughout the orphan drug lifecycle and fell into 12 themes: research outside of clinical trials; clinical trials; patient reported outcomes measures; patient registries and biorepositories; education; advocacy and awareness; conferences and workshops; patient care and support; patient organization development; regulatory decision-making; and reimbursement decision-making. Existing opportunities were not described in sufficient detail to allow for the level of involvement to be assessed. Additionally, no information on the impact of involvement within specific opportunities was found. Based on feedback from patients and families, documentation of existing opportunities within Canada is poor.
conclusionsOpportunities for patient, family, and patient organization involvement exist throughout the orphan drug lifecycle. However, based on the information found, it is not possible to determine which opportunities would be most effective at each stage.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.