Core Viewpoint - The article highlights the severe challenges faced by patients with ultra-rare diseases in China, particularly the lack of approved medications and the impact of pharmaceutical company bankruptcies on drug availability [1][2][3]. Group 1: Current Situation of Ultra-Rare Diseases - Ultra-rare diseases, defined as those with fewer than 1,400 patients, face significant treatment challenges, with many patients having no available medications [1]. - The case of hereditary periodic ataxia (EA) is discussed, where no specific approved drugs exist, forcing patients to rely on off-label medications like aminopyridine, which is not commercially available in China [2][3]. Group 2: Pharmaceutical Industry Challenges - Acorda Therapeutics, the original manufacturer of aminopyridine, filed for bankruptcy, highlighting the difficulties faced by companies developing drugs for ultra-rare diseases [3][4]. - The "patent cliff" is a significant issue for pharmaceutical companies, with an estimated 130 drugs expected to lose exclusivity between 2022 and 2027, leading to increased competition from generics [4]. Group 3: Legislative and Policy Developments - There is a growing call for legislation to support rare disease drug development, but progress has been slow at the institutional and governmental levels [5][6]. - Recent initiatives in Shanghai aim to improve the regulatory environment for rare disease drugs, including optimizing import inspection processes and enhancing insurance support [6][7].

Core Insights - The article highlights the severe challenges faced by patients with ultra-rare diseases, particularly the lack of approved medications and the reliance on off-label treatments [1][2][3] Group 1: Current Situation of Ultra-Rare Diseases - Ultra-rare diseases are defined as those with fewer than 1,400 patients, leading to a lack of treatment options and systemic epidemiological data [1][2] - Genetic periodic ataxia (EA) is an example of an ultra-rare disease with no approved drugs globally, forcing patients to rely on off-label use of medications like aminopyridine [2][3] - The original manufacturer of aminopyridine, Acorda Therapeutics, filed for bankruptcy, complicating the availability of this critical medication for EA patients [3] Group 2: Legislative and Market Challenges - The pharmaceutical industry faces significant challenges due to the "patent cliff," with an estimated 130 drugs losing exclusivity from 2022 to 2027, which may lead to increased competition from generics [4] - The small patient population for ultra-rare diseases makes it difficult for original manufacturers to recoup costs through sales, prompting calls for government intervention and legislative support [5] - Recent developments indicate a growing recognition of the need for legislation to support rare disease drug development, with initiatives underway in Shanghai to address these issues [6][7]

Core Insights - Approximately 100 rare disease medications have been included in the medical insurance catalog, covering 42 types of rare diseases [1] - In 2024, the medical insurance fund will pay 8.6 billion yuan for rare disease medications, accounting for 7.7% of the total payment for medications during the agreement period [1] - The establishment of a multi-layered guarantee system for rare diseases is underway, combining basic medical insurance, major illness insurance, and medical assistance [1][2] Group 1 - The National Healthcare Security Administration is actively promoting the inclusion of medications in the insurance catalog and the construction of a "dual-channel" supply mechanism to improve drug accessibility [1][2] - The number of hospitals in the national rare disease diagnosis and treatment collaboration network has increased from 324 in 2019 to 419 currently [1][2] - The national rare disease direct reporting system has registered a total of 1.64 million cases, with 1.5 million confirmed cases [2] Group 2 - Future selection criteria for rare disease medications should consider severity, intervention methods, and social impact, rather than just incidence rates [3] - The entry of rare disease medications into the catalog must prioritize clinical and patient benefits, focusing on drugs with clear biomarkers and measurable efficacy [3] - There is a need to challenge the perception that rare disease drugs must be high-priced, as some production technologies are mature and costs are controllable [3] Group 3 - Emphasis on refined management of rare disease medications is crucial due to their high cost and long-term prescription nature [3] - Collaboration among over 400 institutions in the national rare disease diagnosis and treatment collaboration network is essential for effective management practices [3][4] - The 2025 China Rare Disease Conference was co-hosted by multiple organizations, highlighting the collective effort in addressing rare diseases [4]

Core Viewpoint - There is a consensus on the urgency of legislation for rare diseases, but significant disagreements remain regarding the specific content of such legislation [1][2]. Group 1: Current Status of Rare Disease Legislation - The call for legislation on rare diseases has increased, with over 20 million patients in China facing challenges such as difficult diagnosis, medication access, and heavy financial burdens [1]. - Currently, there is no official definition of "rare diseases" in China, and the existing catalog includes only 207 diseases, which is limited compared to over 10,000 rare diseases globally [2][3]. - The existing mechanism for updating the rare disease catalog is deemed inadequate, necessitating legislative clarity on the definition of rare diseases and related medications [2]. Group 2: Challenges in Defining Rare Diseases - There is ongoing debate among various departments and experts regarding how to define rare diseases and rare disease medications, which is a major barrier to legislative progress [2][3]. - The need for a specialized legislative approach versus integrating rare disease provisions into existing laws is still under exploration [3]. Group 3: Local Initiatives and Legislative Efforts - Local governments, such as Shanghai and Jiangsu, have begun to incorporate provisions for rare diseases into their medical insurance regulations, which may be more readily accepted than standalone legislation [4]. - The Shanghai Medical Insurance Regulations encourage medical institutions to provide services for rare diseases and ensure coverage for medications listed in the national insurance catalog [4]. Group 4: Societal Perceptions and Economic Considerations - There is a lack of comprehensive understanding of rare diseases among the public, with some comparing the costs of treating rare diseases unfavorably to treating more common conditions [4][5]. - Some local governments exhibit a budgetary mindset, focusing on the costs associated with rare disease treatment rather than the potential economic benefits of developing a rare disease industry [5][6].