Identifying Evidence Gaps for Hemophilia B by Developing a Factsheet Using Targeted Review of Literature: Shaping the Future Real‑World Evidence Studies

OBJECTIVES: Owing to the shrinking budget due to the global economic downturn, evidence from sources other than randomized controlled trials is being accepted, especially in the case of rare diseases. Factsheet is one such compilation of the available literature for a disease, based on targeted literature review. We aimed to develop a factsheet for hemophilia B for population in the United States (US) that will identify evidence gaps for shaping the future real‑world evidence (RWE) studies.

METHODS: A targeted search was performed using Embase^® on 21-April-2023, for hemophilia B in the US population. The categories for data-points were epidemiology, demographics, disease specific, comorbidities, mortality, treatment patterns, health care resource utilization (HCRU), quality of life (QoL) and disease management (hemophilia treatment centers [HTCs] and self-care). Title/abstract (TIAB) followed by full text screening was performed for inclusions and data-points were extracted from the included publications in the predesigned factsheet (Microsoft Excel). Publications/reports for extraction were prioritized based upon the most recent year of publication followed by the sample size. Ad-hoc google searches were performed for the data-points which were still missing. Percentage gaps were calculated by dividing the count of missing data-points by the total data-points evaluated for a particular category.

RESULTS: A total of 151 records were retrieved. After TIAB and full text screening a total of 32 publications were included. In-depth analysis of publications led to data extraction from 12 publications/reports (9/3: Embase^®/Google). All data-points related to the categories of demographics, comorbidities, and mortality were identified. However, gaps existed in data-points related to HTCs and self-care (100%), QoL (75%), epidemiology (62.9%), disease-specific (50%), treatment patterns, (28.5%) and HCRU (23.5%).

CONCLUSIONS: The evidence indicates huge gaps (≥50%) in disease management, QoL, epidemiology, and disease-specific related data-points for hemophilia B in the US. These gaps can help in shaping and planning future RWE studies.