90余种罕见病药物纳入医保，“超罕”患者用药却告急，如何破解？

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].