OBJECTIVES: China National Medical Products Administration recently released the Second Rare Disease Catalogue in 2023 which listed another 86 rare diseases. This catalogue provided strong support for the market access and reimbursement of relevant drugs. This study aims to summarize the international progress in health economics studies regarding these diseases, and further enhance related research in China.

METHODS: A scoping review based on PRISMA-ScR methodology was conducted. The search for articles was based on Pubmed from 2000 to May 2024. All the screening and data extraction steps were executed by two independent reviewers.

RESULTS: A total of 919 articles were identified, and eventually 189 articles were included for analysis. Of these articles, 40 articles (21.2%) and 77 articles (40.7%) were published in the previous three and five years. Of the 86 diseases listed, only 28 were found to have published studies. The top 5 diseases with the most published articles were as follows: melanoma (88, 46.6%), glioblastoma (15, 7.9%), thalassemia major (12, 6.3%), gastrointestinal mesenchymal stromal tumors (10, 5.3%), and retinopathy of prematurity (9, 4.8%). Cost-effectiveness analysis (CEA) was the main study type (172, 91.0%), whilst others were related to economic disease burden, budget impact analysis, society economic impact, etc. In all CEA studies, the evaluation topics pertained most often to medical therapies (128, 74.4%), screening strategies (19, 11.0%) and diagnose strategies (15, 8.7%). Most studies were conducted in the USA (65, 34.3%) and the UK (19, 10.0%), whereas China accounted for 6 (3.2%).

CONCLUSIONS: There has been an increasing publication trend of health economic studies on rare disease over the last couple of years. However, research on most diseases is still missing or scarce. Increased research, including in diverse geographic regions and especially in China, is much appreciated to promote rational drug use and enhance patient outcomes.