Intractable & Rare Diseases Research | Survey on Medical Security for Dravet Syndrome Patients in China

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This study systematically evaluates the coverage of China's multi-level medical security system for patients with Dravet syndrome from a patient-centered perspective, revealing that despite high insurance enrollment, patients still face significant out-of-pocket burdens and insufficient policy coordination, providing empirical evidence for improving rare disease medical security policies.

 

Literature Overview

The article 'Medical security for rare disease patients in China: Insights from patients with Dravet syndrome,' published in the journal Intractable & Rare Diseases Research, reviews and summarizes the economic burden of illness, current medical security coverage, and actual reimbursement experiences for Dravet syndrome patients in China. Using a questionnaire survey, the study collected feedback from 161 primary caregivers of patients across 27 provinces, systematically analyzing the real-world performance and unmet needs of multi-layered security models including basic medical insurance, critical illness insurance, medical financial assistance, commercial health insurance, and charitable aid. Results show that despite high insurance enrollment, most families struggle to afford treatment costs, with nearly half of respondents paying more than half of total expenses out of pocket. The paper further highlights issues such as insufficient reimbursement depth, significant regional policy disparities, high deductibles, and incomplete drug directory coverage, indicating an urgent need for enhanced policy coordination and system integration to improve protection effectiveness.

Background Knowledge

Dravet syndrome (DS), also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare developmental and epileptic encephalopathy typically emerging within the first year of life, characterized by recurrent, treatment-resistant febrile and afebrile seizures. It is caused by mutations in the SCN1A gene, leading to dysfunctional sodium channels and neuronal hyperexcitability. Patients often experience progressive developmental delays, cognitive impairments, behavioral abnormalities, sleep disturbances, and motor deterioration, along with a high risk of sudden death, severely affecting quality of life and imposing long-term caregiving burdens on families. Currently, there is no cure; treatment focuses on seizure control using medications such as valproate, clobazam, and stiripentol. Some patients try ketogenic diets or neuro-modulation techniques. Novel therapies, including serotonergic drugs, gene editing, and antisense oligonucleotide (ASO) therapies, are under development but remain costly and largely inaccessible. In China, Dravet syndrome was included in the first edition of the Rare Disease Catalogue in 2018, receiving priority review and insurance access support. However, actual medical security still faces challenges such as incomplete drug list coverage, difficulties in cross-regional reimbursement, and low reimbursement rates. Moreover, the lack of nationwide epidemiological data leads to uncertainty in estimating disease burden, further undermining policy precision. This study uses Dravet syndrome as a case to systematically evaluate the real-world performance of China's multi-level medical security system, offering valuable policy insights.

 

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Research Methods and Experiment

This study employed a cross-sectional design, using a self-developed online questionnaire to investigate the medical security experiences of Dravet syndrome patients and their primary caregivers in China. The questionnaire consisted of two parts: basic information (e.g., age, region, household annual income, medication use, annual treatment cost) and questions related to multi-level medical security (including financial burden, insurance usage, reimbursement experience, and satisfaction). The survey was distributed via the 'CHN Dravet Syndrome Patient Support Group' online platform and completed by primary caregivers to ensure data accuracy. The survey period was March 13–24, 2025, yielding 161 valid responses. Inclusion criteria were patients diagnosed with Dravet syndrome or their caregivers who provided informed consent; exclusions included incomplete data, logical inconsistencies, or duplicate submissions. Data were analyzed using SPSS 26.0 for descriptive statistics, with categorical variables presented as frequencies and percentages. All costs were converted to USD using the 2024 average exchange rate (1 USD = 7.1217 RMB).

Key Findings and Insights

• 98.76% of Dravet syndrome patients were enrolled in basic medical insurance—higher than the national average—yet reimbursement rates were limited, and most families still faced significant financial burdens
• 41.67% of respondents reported that out-of-pocket expenses accounted for more than half of total treatment costs, indicating that the current insurance system fails to effectively alleviate financial pressure
• Although overall satisfaction with the multi-layered medical security system was high (over 75%), basic insurance suffers from low reimbursement rates, difficulties in inter-provincial settlement, high thresholds for chronic disease certification, high deductibles, and low caps
• Critical illness insurance participation was only 7.45%, with high deductibles undermining its supplementary role; medical financial assistance covered only 1.86%, primarily targeting low-income groups, leaving most middle-income families excluded
• Commercial health insurance (including inclusive health insurance) usage was 7.45%, with 75% of policyholders receiving claims, but only one-third reported significant cost reduction, and some expressed unwillingness to renew due to high deductibles and renewal restrictions
• Charitable assistance coverage was 1.86%, primarily offering cost subsidies or drug aid through foundations. While partially relieving the burden, it lacks sustainability and scalability
• Over 80% of respondents called for improved reimbursement convenience, faster development of electronic medical insurance systems, and cross-regional information interoperability to enhance healthcare access

Research Implications and Outlook

This study is the first to systematically reveal the operational bottlenecks of China’s multi-level medical security system in addressing high-cost rare diseases like Dravet syndrome, based on patient-reported data. Despite an established institutional framework, policy fragmentation, insufficient reimbursement depth, and significant regional disparities continue to result in widespread 'insured but not covered' phenomena. The study emphasizes the need for reforms in system coordination, unified drug formularies, and optimized payment mechanisms—such as establishing a national special fund, promoting integrated settlement between basic and commercial insurance, and expanding medical financial assistance coverage.

Future research could extend to other rare disease populations, conducting cross-disease comparative analyses to evaluate heterogeneity in equity and accessibility. Real-world data collection should be strengthened by integrating medical insurance databases with patient registries to dynamically monitor policy impacts. Additionally, as gene therapies and ASO treatments enter clinical use, innovative payment mechanisms—such as annuity-based payments, risk-sharing, or outcomes-based reimbursement—must be developed to ensure sustainable rare disease medical security.

 

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Conclusion

This study systematically evaluates the current state of medical security for Dravet syndrome patients in China, finding that despite high enrollment in basic medical insurance, families commonly face treatment costs far exceeding their financial capacity, with persistently high out-of-pocket ratios. While a multi-layered security system exists, layers lack effective coordination: basic insurance offers insufficient reimbursement depth; critical illness insurance and medical financial assistance have limited coverage; commercial insurance is constrained by pre-existing condition exclusions and high deductibles; and charitable aid lacks sustainability. Respondents generally appreciate existing policies but express stronger expectations for system integration and service optimization. The study recommends strengthening national coordination, promoting nationwide unification of the medical insurance drug list, improving cross-regional settlement convenience, and exploring special payment mechanisms for high-cost rare disease drugs. Additionally, medical financial assistance eligibility should be expanded to include families at risk of poverty due to illness, and coordination between commercial insurance and basic medical insurance should be enhanced. The ultimate goal is to build a fair, sustainable, and fully integrated rare disease medical security ecosystem that effectively reduces financial burdens on families, improves treatment accessibility, and enhances quality of life. This study provides critical evidence to support the refinement of China’s rare disease health policies.

 

Jingjing Wu, Xinyan Lu, Lei Gu, Jun Li, and Ningying Mao. Medical security for rare disease patients in China: Insights from patients with Dravet syndrome. Intractable & Rare Diseases Research.