Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol.

Abstract

Objective: The objectives of this review are to identify barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries; determine whether and how these differ among patient partners, other knowledge users, and researchers; and chart definitions of rare diseases and rare disease patient registries.

Introduction: Rare disease patient registries are vital to improving the understanding of the natural histories and predictors of outcomes of rare diseases, assessing interventions, and identifying potential participants for clinical trials. Currently, however, the functionality of rare disease patient registries is not fully optimized. To improve the quality and functionality of rare disease patient registries, it is important to understand the barriers and/or facilitators involved in their design, maintenance, and utilization; how these might differ among patient partners, other knowledge users, and researchers; and to delineate the range of definitions for rare diseases and rare disease patient registries.

Inclusion criteria: Evidence from any study design or format (including empirical studies, books, manuals, commentaries, editorials, guidance documents, conference abstracts, review documents, and gray literature) that references barriers or facilitators for designing, maintaining, or utilizing rare disease patient registries will be considered for inclusion.

Methods: The review will follow the JBI methodology for scoping reviews. We will search health science databases, including the Cochrane Library, Embase, MEDLINE, the JBI EBP Database, and PsycINFO, from inception onwards. Multiple sources will be searched for theses and gray literature, including the Canadian Agency for Drugs and Technologies in Health (CADTH) Grey Matters. Two independent reviewers will screen titles and abstracts and full-text documents, as well as abstract data. Disagreements will be resolved through discussion or with a third reviewer. Evidence will be synthesized descriptively and reported using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRIMSA-ScR).

Review registration: Open Science Framework https://osf.io/mvf9r.