过去几年，罕见病药物断供事件偶有发生，但"超罕"家庭面临的困境更为残酷——无药可用甚至成为常 态。 超罕见病(俗称"超罕")，是罕见病中患病率极低、确诊人数极少的细分群体。据国家卫健委第二届罕见 病诊疗与保障专家委员会委员谢俊明介绍，如果一种疾病的发病人数在1400人以内，即发病率低于百万 分之一，那么这种疾病就是"罕见病中的罕见病"。戈谢病、庞贝病、法布雷病等均在此列，国内确诊患 者仅数百人。 近年来，国内罕见病领域的用药难问题取得多项突破。截至去年底，90余种罕见病治疗药品已纳入国家 医保药品目录。据蔻德罕见病中心统计，共覆盖《罕见病目录》里超过50种罕见病。 但是，"超罕"家庭的困境却鲜有人知。李明(化名)是一位8岁EA患儿的母亲。几年前，她的女儿出现反 复症状，时而严重，时而轻微。辗转多家医院问诊治疗一直没找到缓解的办法，在发病三年后，最终被 确诊为EA。 公开资料显示，这是一类以发作性小脑功能障碍为特征的神经系统遗传病，核心表现为间歇性共济失调 发作，发作期间患者神经功能通常正常或仅伴轻微症状。由于过于罕见，EA缺乏系统性流行病学调 查，暂无公开的患者数量或发病率数据，且间歇性特征使其更难识别统计， ...

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]