Intractable & Rare Diseases Research | Progress in the Research and Pharmacoeconomic Evaluation of Drugs and Devices for Rare Diseases in China

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This article systematically reviews the latest advancements in China's rare disease prevention and treatment system, covering drug and device development, pharmacoeconomic evaluation, patient organization involvement, and multi-level healthcare security systems, while proposing future policy directions, offering significant reference value.

 

Literature Overview

The article 'Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China', published in the journal 'Intractable & Rare Diseases Research', reviews and summarizes recent progress in China regarding rare disease drug and medical device development, pharmacoeconomic evaluation, patient organization participation, and the construction of multi-tiered healthcare security systems. The article notes that as of 2025, China has approved 223 rare disease drugs, with 61% included in the national medical insurance catalog, while advancing gene therapy, diagnostic technologies, and innovative payment mechanisms. The authors emphasize that despite significant progress, further efforts are needed in legislation, domestic innovation, and international collaboration to improve treatment accessibility and equity.

Background Knowledge

Rare diseases are a group of disorders with extremely low prevalence, typically severe, chronic, and often genetic. There are approximately 300 million patients globally. Due to small patient populations, high R&D costs, and limited market returns, rare disease drugs (also known as orphan drugs) have long faced dual challenges of insufficient R&D incentives and high pricing. China released its first national rare disease catalog of 121 diseases in 2018, expanded to 207 in 2024, providing a foundation for diagnosis, treatment, and medical insurance policies. Currently, most rare diseases lack effective treatments, resulting in a heavy disease burden. Emerging technologies such as gene therapy, high-throughput sequencing, and AAV vector delivery offer curative potential for certain monogenic rare diseases (e.g., hemophilia B, spinal muscular atrophy). However, traditional pharmacoeconomic evaluation methods (e.g., ICER) are difficult to apply to rare diseases due to lack of effective controls, small sample sizes, and uncertain long-term efficacy. Additionally, patient organizations play a crucial role in natural history studies, drug development advocacy, and healthcare policy advancement. China is exploring a multi-tiered healthcare security system, including basic medical insurance, local special funds, and commercial insurance, to alleviate patients' financial burdens. This study systematically summarizes policy innovations and practical pathways within China’s complex rare disease ecosystem, offering significant practical and policy-relevant value.

 

Can be used to preliminarily predict phenotypes potentially caused by gene knockout before designing experiments.

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Research Methods and Experiments

This study employs a combination of policy analysis and literature review to systematically examine policy documents, official statistics, clinical research findings, and patient organization case studies in China's rare disease field since 2018. The authors analyze the development background and impact of the national rare disease catalog, and review policy progress by the National Medical Products Administration (NMPA) and the National Healthcare Security Administration (NHSA) in orphan drug review, priority approval, and medical insurance access. The article also evaluates clinical data of gene therapy products (e.g., Dalnacogene Ponparvovec) and summarizes the current application status of diagnostic technologies (e.g., high-throughput sequencing) and therapeutic devices (e.g., brain-computer interfaces, exoskeleton robots). Through case studies (e.g., Angelman Syndrome Family Network, LNS Care Home), it reveals the role of patient organizations in advancing research and policy reform. Finally, the article explores the operational mechanisms of multi-tiered healthcare security systems and the feasibility of innovative payment models.

Key Conclusions and Insights

• China has established a relatively comprehensive policy framework for rare disease prevention and treatment, issuing two national rare disease catalogs covering 207 diseases, guiding clinical and insurance decisions
• As of 2025, 223 rare disease drugs have been approved in China, with 136 (61.0%) included in the national medical insurance catalog, significantly improving patient access
• Dalnacogene Ponparvovec, China’s first independently developed gene therapy drug, has been approved for moderate-to-severe hemophilia B, with long-term follow-up showing stable increases in FIX activity and significantly reduced bleeding rates
• In diagnostics, 29 provinces have implemented newborn screening programs based on tandem mass spectrometry and high-throughput sequencing; therapeutic devices such as deep brain stimulation and exoskeleton robots are now in clinical use
• Pharmacoeconomic evaluation faces multiple challenges, including lack of effective controls, heterogeneous cost data, single-arm trial designs with small samples, and the inapplicability of traditional ICER thresholds
• Over 100 registered patient organizations actively participate in natural history studies, biobanking, and policy advocacy, becoming a key force in advancing the rare disease ecosystem
• China is piloting multi-tiered healthcare security systems, including provincial special funds in Zhejiang and Jiangsu, and commercial insurance coverage of innovative drugs starting in 2025, significantly expanding reimbursement scope
• Future efforts should focus on advancing rare disease legislation, refining pharmacoeconomic evaluation methods, improving health utility measurement, encouraging domestic orphan drug development, and strengthening international collaboration

Research Significance and Outlook

This study comprehensively presents China's systemic progress in rare diseases, from policy formulation to clinical translation, revealing an innovative model of collaboration among government, industry, healthcare institutions, and patient organizations. The summarized multi-tiered security system provides a policy model for other countries, especially in the design of payment mechanisms for high-cost gene therapies.

The study also highlights that despite progress, China's rare disease field still faces challenges such as reliance on imported core technologies, insufficient domestic innovation, and limited application of real-world evidence. Future efforts should strengthen national rare disease registry data integration, promote efficacy evaluation based on real-world data, and explore innovative reimbursement mechanisms such as installment payments and annuity models to mitigate the financial impact of one-time high-cost therapies.

 

An auxiliary tool for AAV vector design, used to evaluate viral packaging efficiency.

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Conclusion

This article systematically summarizes recent progress in China in the development of drugs and medical devices for rare diseases, pharmacoeconomic evaluation, and healthcare security system construction. The study shows that China has approved 223 rare disease drugs, over 60% of which are included in the national medical insurance catalog, with breakthroughs also achieved in gene therapy, newborn screening, and innovative device applications. Patient organizations play a key role in advancing research and policy advocacy, and the pilot multi-tiered healthcare security mechanisms in various regions have effectively improved treatment accessibility. However, challenges such as high orphan drug pricing, reliance on imported R&D, and inadequate pharmacoeconomic evaluation methods adapted to rare disease characteristics remain. Future efforts should accelerate rare disease legislation, improve health technology assessment systems, enhance domestic innovation, and strengthen international cooperation. China's exploration in the field of rare diseases reflects not only medical progress but also social equity and humanistic care, offering valuable experience for global rare disease prevention and control. This study provides policymakers, researchers, and healthcare practitioners with a comprehensive analysis of the current landscape and forward-looking recommendations, holding significant academic and practical value.

 

Shanlian Hu. Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China. Intractable & Rare Diseases Research.