ArticleJMIR public health and surveillance2024
Patterns of the Health and Economic Burden of 33 Rare Diseases in China: Nationwide Web-Based Study.
Article in JMIR public health and surveillance, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- What Drives Public Preference for Rare Drugs Coverage in China? Insights From a Multi-Center Discrete Choice Experiment.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- How to evaluate rare disease policy effectiveness based on policy modeling consistency (PMC) index model: A quantitative assessment of policy implementation in China.Intractable & rare diseases research · 2026Article
- Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study.Applied research in quality of life · 2026Article
- Reconceiving orphan drug market exclusivity as a conditional public-law entitlement: a sustainable regulatory governance model with comparative lessons for China.Frontiers in medicine · 2026Article
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
- Capability wellbeing of parents caring for children with rare diseases: a national cross-sectional study.BMC public health · 2025Article
- Healthcare Resource Utilization, Economic Burden, and Multi-Level Medical Security System for Individuals with Spinal Muscular Atrophy in Shaanxi Province, China.Healthcare (Basel, Switzerland) · 2025Article
- Experiences of Family Members and Patients with Spinal Muscular Atrophy Under the Multi-Level Medical Security System in Shaanxi Province, China: A Mixed Study.Healthcare (Basel, Switzerland) · 2025Article
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5 authors.
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Abstract
backgroundRare diseases (RDs) affect millions of individuals collectively worldwide, contributing to significant burdens on patients and families in various aspects. However, there is a lack of evidence on the underlying patterns of burdens among diverse RDs for informing targeted social and health policies to address the unmet needs of this vulnerable population.
objectiveThis study aimed to examine the underlying patterns of the health and economic burden of 33 different RDs in China and identify the potential determinants.
methodsA nationwide internet-based cross-sectional survey was conducted in China between 2019 and 2020. Physical and mental health burden was measured by health-related quality of life. Economic burden was evaluated based on the proportions of direct medical, direct nonmedical, and indirect costs relative to household income. We used cluster analysis to identify patterns of health and economic burdens and conducted multinomial logistic regression to explore potential predictors of cluster membership.
resultsThe study included 8454 adults and 8491 children affected by 33 RDs. The following 3 clusters were identified: "extremely high burden" (representing 92/8454, 1.1% and 19/8491, 0.2% of adult and pediatric patients, respectively), "overall high burden" (5933/8454, 70.2% and 4864/8491, 57.3%, respectively), and "overall low burden" (2429/8454, 28.7% and 3608/8491, 42.5%, respectively). Wilson disease, Marfan syndrome, and Langerhans cell histiocytosis more likely resulted in an "extremely high burden" than others. Poverty was significantly associated with being in this extremely high burden group. Diseases causing neuromuscular symptoms and requiring long-term treatment (eg, amyotrophic lateral sclerosis, spinocerebellar ataxia, and Dravet syndrome) were prevalent in the "overall high burden" group. Key predictors of this group included older age, lower socioeconomic status, diagnostic delay, and comorbidity.
conclusionsThis study provides novel and valuable evidence on the burden of RDs in developing regions like China. The findings reveal significant disparities in the impact of RDs, emphasizing the need for targeted health care interventions and policies.
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