Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol
Bibliographic record
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.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".