Grant: Project Grant

Rare diseases (RDs), which are diseases that affect less than 1 in 2000 individuals, collectively pose significant burdens. Comprehensive data collection through RD patient registries (RDPRs) is vital to improve understanding the natural history of RDs, identify risk factors for various RD outcomes, and optimize therapy development. For these reasons, designing, maintaining, and utilizing RDPRs are critically important. There is currently, however, no evidence-based guidance for knowledge users (KUs) (e.g, patient partners, clinicians, researchers, etc) to carry this out. Our overall goal is to co-create evidence-based guidance on RDPRs design, maintenance, and utilization by KUs. We will conduct a scoping review to identify identify barriers/facilitators, governance, and decision-making in designing, maintaining, and utilizing RDPRs using the methods proposed by the JBI to identify existing literature on RDPRs. We will conduct semi-structured key informant interviews with Canada-based KUs. We will will adopt a Critical Realism framework and realist epistemological approach to better understand KUs experiences with RDPRs and their development. We will analyze these interviews using thematic analysis, applying the Framework Method. After this, a core group will translate barriers/facilitators and governance/decision-making findings into recommendation statements. We will solicit input from a larger group of KUs on these recommendations for designing, maintaining, and utilizing RDPRs through an international modified Delphi process. Respondents will vote on recommendation statements to form a guidance document. Our findings will be used to form evidence-based guidance for patient partners, clinicians, researchers, clinicians, and other KUs on how to design, maintain, and utilize rare disease patient registries. This will help optimize the value of RDPRs in Canada and beyond.