超90种罕见病药物纳入医保 患病率低于百万分之一的“超罕”患者用药却告急 如何破解难题？

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]