Core Viewpoint - The establishment of a rare disease special fund is crucial for improving the treatment and support for over 20 million rare disease patients in China, addressing high-cost medication issues and ensuring sustainable funding sources for treatment [1][6][8] Group 1: Current Situation and Challenges - Over 7,400 rare diseases affect more than 420 million people globally, with over 20 million patients in China [1] - Rare diseases often require lifelong treatment with high costs, leading to irreversible damage if patients cannot afford medication [2] - The current healthcare system lacks a dedicated funding mechanism for rare diseases, making it difficult for patients to access necessary treatments [3][6] Group 2: Local Initiatives and Models - Shanghai has pioneered a multi-tiered funding mechanism for rare diseases since 2013, establishing a special fund for Gaucher disease that significantly reduced out-of-pocket expenses for patients [2][3] - Zhejiang Province has set up a rare disease medication guarantee fund, serving as a model for other regions [4][5] - Jiangsu Province has also proposed a structured funding mechanism for rare diseases, emphasizing government-led, multi-channel financing [5] Group 3: Expert Opinions and Recommendations - Experts advocate for the establishment of a national rare disease special fund, drawing on successful local models to address the high costs of rare disease medications [6][7] - The fund should target patients not covered by insurance and those facing high personal payment ratios, integrating various existing support resources [7][8] - Funding sources could include government allocations, healthcare reform surpluses, and public welfare funds, with a focus on effective utilization and transparent management [8]

Core Viewpoint - The article emphasizes the need for a stable multi-party payment system to ensure the treatment of rare disease patients, highlighting the challenges of high-cost medications and the necessity for a dedicated fund to support these patients [1][4]. Group 1: Rare Disease Definition and Current Challenges - Rare diseases are defined as those with an incidence of less than 1 in 10,000 and affecting fewer than 140,000 individuals [1]. - Despite the inclusion of some high-value rare disease medications in the national insurance list, significant financial burdens remain for patients requiring long-term treatment [2]. - The high costs of rare disease medications make it difficult to fully integrate them into basic medical insurance, and existing commercial insurance options are often inadequate [2][4]. Group 2: Case Study of Gaucher Disease - Gaucher disease, caused by mutations in the GBA gene, can lead to severe health complications and has annual treatment costs exceeding one million yuan [3]. - In 2020, approximately 3,000 individuals in China were diagnosed with Gaucher disease, which has been included in the national rare disease directory [3]. - Shanghai has pioneered a multi-channel support model for Gaucher disease, combining temporary procurement, corporate assistance, and charitable funds to ensure patient access to necessary medications [3]. Group 3: Need for a Specialized Fund - Experts advocate for the establishment of a rare disease special fund to provide stable financial support, as current mechanisms are insufficient for long-term patient care [4][6]. - The proposed fund would address the challenges of financing and operational efficiency, integrating various existing support systems to enhance overall effectiveness [6]. - Local governments, such as those in Jiangsu and Zhejiang provinces, have begun to establish their own rare disease funds, with Zhejiang being the first to implement a dedicated mechanism in 2019 [5]. Group 4: Policy Recommendations - The upcoming national policy discussions are expected to focus on the establishment of provincial-level rare disease funds to support treatment and rehabilitation needs, particularly for high-value medications not covered by national insurance [5]. - The establishment of a special fund is seen as essential for creating a stable and coordinated support system for rare disease patients, addressing the unique challenges posed by the high costs of treatment [6].

Core Viewpoint - The article emphasizes the urgent need for a comprehensive and sustainable support system for rare disease patients in China, highlighting the challenges they face in accessing necessary medications and treatments [1][10]. Policy Framework - The national policy framework for rare diseases is becoming clearer, with approximately 100 rare disease drugs included in the medical insurance directory by 2025, covering 42 disease types [2]. - Basic medical insurance is limited to addressing fundamental issues, indicating a need for a structured "second battlefield" to tackle high-value rare disease medications [2]. Patient Statistics - There are over 7,000 known rare diseases globally, affecting approximately 3.5% to 5.9% of the population, translating to 260 million to 450 million people worldwide [2]. - In China, around 1,400 rare diseases have been identified, with an estimated 20 million patients affected [2]. Case Study: Gaucher Disease - Gaucher disease serves as a key example of the challenges in medication access, with treatment costs reaching approximately 1 million RMB annually for patients [3]. - Shanghai has implemented a multi-channel support model since 2013, but the sustainability of this model is now in question due to potential discontinuation of funding [3]. Payment Models and Challenges - The DRG/DIP payment model creates financial disincentives for hospitals to treat rare disease patients, leading to a situation where patients struggle to access necessary care despite medications being covered by insurance [4]. - There are significant legal and systemic issues that need to be addressed to create a robust support system for rare disease medications and patient assistance [4]. Integration of Support Systems - The establishment of local rare disease special funds is seen as a necessary step to overcome fragmented policies and improve coordination among various support mechanisms [6]. - A comprehensive "1+N" model for rare disease support is emerging, integrating personal payments, special insurance, charitable donations, and national medical insurance [5]. Long-term Sustainability - Continuous medication is crucial for conditions like Gaucher disease, where treatment interruption can lead to irreversible damage, underscoring the need for stable and sustainable funding mechanisms [7]. - The proposed special funds aim to clarify application processes and share financial burdens among various support channels, addressing gaps in coverage for rare disease medications [7]. Local Initiatives - Local governments, such as Jiangsu Province, are developing provincial-level rare disease medication support mechanisms, which include specific diseases and treatment options [9]. - The Shanghai Rare Disease Relief Foundation has been instrumental in providing support and coordinating resources for patients, highlighting the importance of integrating various assistance programs [9]. Conclusion - The establishment of local rare disease special funds is not a rejection of existing systems but rather an enhancement of their capabilities, aiming to ensure that patients can access necessary medications and treatments consistently [10].

Core Viewpoint - The ultimate goal is to help rare disease patients reintegrate into society through collective efforts, highlighting that rare diseases are not just medical issues but also significant social and livelihood concerns [1] Group 1: Rare Disease Treatment and Research - The development of drugs for rare diseases requires a deep understanding of the disease's causes and mechanisms, as effective treatment cannot occur without this foundational research [1] - Enzyme replacement therapy is a primary method for treating Gaucher disease, but it is costly and requires lifelong treatment to prevent severe health consequences [2] - Early and continuous treatment is crucial for saving lives and protecting the health of rare disease patients [2] Group 2: Social Support and Funding Mechanisms - The Shanghai Rare Disease Prevention Foundation has been actively promoting public awareness and legislative research to support rare disease patients [1] - Despite existing support mechanisms, there is a need for a coordinated approach to provide stable funding and support for rare disease patients [3] - Establishing a rare disease special fund is essential for providing systematic support and integrating various existing healthcare resources [3] Group 3: Legislative Developments - The implementation of the Shanghai Medical Security Regulations in March 2025 encourages social participation in the diagnosis, research, and medication security for rare diseases [3] - Legislative research is being conducted to ensure patient-centered protections throughout the entire lifecycle of care, from prevention to treatment [3] - A pragmatic approach of "fund first, legislation later" is proposed to establish a special fund that can inform future legislative efforts [4][5] Group 4: Ecosystem Development - A dual-driven model is suggested to create a favorable ecosystem for rare disease treatment, involving both direct support policies and incentives for private sector participation [5] - The collaboration of government and various stakeholders is seen as essential for addressing the complex issues surrounding rare diseases [5]

Core Viewpoint - The accessibility of innovative drugs for rare disease patients is a significant barrier, prompting calls for a national-level rare disease special fund to alleviate financial burdens on patients and their families [1][2]. Group 1: Policy Recommendations - Establishing a national-level rare disease special fund is essential, with clear principles and development goals to integrate various compensation policies [1]. - A multi-faceted funding and payment mechanism involving health insurance, critical illness insurance, commercial insurance, medical assistance, and charitable funds is necessary to address the payment issues for high-value rare disease drugs [2]. Group 2: Regional Initiatives - Provinces like Jiangsu, Zhejiang, and cities like Qingdao have made significant strides in rare disease drug coverage, serving as models for others [2]. - Zhejiang Province's establishment of a rare disease drug guarantee fund in December 2019, which includes a personal payment cap, has shown stable operational effects and provides a potential framework for national implementation [2]. Group 3: Fund Management and Legislation - The rare disease special fund is viewed as an ideal payment solution, enhancing public awareness and supporting local innovation in drug development [3]. - The fund should be managed by provincial social security accounts, with diverse funding sources including government allocations, donations, and lottery funds [3]. - Emphasizing the importance of legislative support for the establishment of a sustainable payment mechanism, the fund should balance patient rights with equitable resource distribution [3].