ArticleOrphanet journal of rare diseases2022
Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers' experiences and perceptions.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Evaluation of research co-design in health: a systematic overview of reviews and development of a framework.Implementation science : IS · 2024Pooled it
- 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
- Building capacity for patient-engagement in neuromuscular disease research: A network project.Journal of neuromuscular diseases · 2026Article
- From patients to partners: evaluating a co-designed website for congenital hypogonadotropic hypogonadism.Endocrine connections · 2026Article
- Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry.American journal of medical genetics. Part A · 2026Article
- Article
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- Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.Orphanet journal of rare diseases · 2025Article
- How are patient partners involved in health service research? A scoping review of reviews.Research involvement and engagement · 2025Review
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Plant molecular farming: a promising frontier for orphan drug production.Biotechnology letters · 2025Review
- A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals.Research involvement and engagement · 2024Article
- Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients' involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, patient involvement in rare diseases research (PI-RDR) is scarce. The aims were: To study the Norwegian researchers` experiences and perceptions of PI-RDR and review the literature on PI-RDR.
methods1. A systematic scoping review of the literature on PI-RDR. 2. A cross-sectional questionnaire study with close-ended and open-ended questions to investigate the researchers` experiences.
resultsIn the scoping review 608 articles read in full-text and 13 articles (one review and twelve primary studies) were included. The heterogeneity of the design, methodology and results was large. Most studies described several benefits of PI, but few described methods for measuring impacts and effectiveness of PI-RDR. In the cross sectional part of this study, 145 of 251 employees working in the nine Norwegian Centers on Rare Diseases participated, of these 69 were researchers. Most (95%) of the researchers claimed that rare diseases research is more challenging than for the more common diseases. The majority (95%) argued that PI-RDR may increase the quality of the studies and the relevance, and most (89%) agreed that PI-RDR in dissemination may increase the awareness and public interest for rare diseases. In the open-ended questions several researchers also claimed challenges related to PI-RDR, and many had proposal for improving PI and promotion of rare disease research.
conclusionBoth the literature and researchers emphasized that PI-RDR is important for improving research quality and increase the public attention on rare diseases, but what constitutes effective PI-RDR still remain unclear. More research on the design, methodology and assessment for measuring the impact of PI-RDR is warranted.
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Registered trials
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