Prioritization of Research Engaged with Rare Disease Stakeholders: A Systematic Review and Thematic Analysis

Abstract

Abstract Background: Although rare diseases (RD) become a significant agenda of healthcare activities all around the world, prioritizing RD research policies with limited evidence has been a challenge in public setting. Since rare conditions require involvement of a wider array of stakeholders to create awareness and political support, it is critically important to identify trends of a various research targeting rare disease stakeholders, including specific topics or issues to be included in RD stakeholder surveys. This systematic review and thematic analysis describes the literature on RD surveys, including the stakeholders involved, and proposes research priorities for policy-making related to RD. Methods: Articles were downloaded from five electronic databases (PubMed, EMBASE, Cochrane Central, Web of Science, and CINHAL) and 115 studies were included. Results: Among 115 studies, the main research participants were patients and/or caregivers (n=77, 67.0%), health professionals (n=18, 15.7%), and the public (n=7, 6.1%). The studies discussed RDs in general (n=46, 40.0%) and endocrine, nutritional, and metabolic diseases (n=20, 17.4 %) and other RDs. According to the topic areas, experience with RD was examined by more than half of the selected studies (n=74, 64.3%) followed by the opinions of stakeholders (n=24, 20.9%). Most of the studies used a survey method (n=114, 99.1%). The majority of the studies were conducted in high-income countries (n=92, 80.0%) and rarely in middle and low-income countries (n=12, 13.8%). Conclusion: Stakeholder research on RD reveals presence of significant unmet needs and challenges faced by the medical system in dealing with RDs. Public support is critical for ensuring political feasibility of increasing national-level investments for RDs and development of medical products and treatment.