OBJECTIVES: To explore trends in rare disease/ orphan disease research reported in a real-world setting from Asian countries from 2013-2023

METHODS: PubMed was searched using appropriate keywords. Retrieved abstracts were deduplicated and screened for inclusion. Full texts of all included abstracts were retrieved and screened for eligibility. Data was extracted from eligible records. Screening and data extraction was performed by two independent reviewers with reconciliation of differences.

RESULTS: From 4,550 initial hits, 339 studies were included in qualitative analysis. Most (N=260) were retrospective studies, followed by cross-sectional (N=29) and prospective (N=27) studies. Top sources for real-world data were patient records (N=187), registries (N=78), and patient surveys (N=24). Patient sample size ranged from 4 to 565,050 patients (the latter was a comprehensive study of all rare diseases in Korea, 2006-2018), and totalled 10,92,032 patients; most studies (N=162) had sample size ≤100. Of the 283/339 studies from single countries, China was the most frequent (N=125), followed by Japan (N=38) and Korea (N=35). There were 56 international studies that included at least one Asian country. Rare diseases involved different organ systems/ therapy areas, with the top three being oncology (N=67), genetic disorder (N=52) and nervous system (N=45). Most studies described natural history of the rare disease in the real-world setting (N=306), including presentation, diagnosis, comorbidities, prognosis, and genetic factors. Epidemiology (incidence, prevalence, risk factors etc) was studied in 100 publications. Clinical outcomes of therapy (efficacy and safety) were studied in 95/339 publications, but humanistic outcomes (quality of life and other patient-reported outcomes) were described in only 39 publications. Economic outcomes including healthcare resource utilization were described in 58 publications.

CONCLUSIONS: Rare disease research in real-world settings from Asian countries focusses more on natural history of the disease and epidemiology, and less on therapy outcomes and economic impact.