孩子救命药“纳保”后却遇“断供”，罕见病用药难怎么解

Core Viewpoint - The article highlights the critical shortage of the rare disease drug Nitisinone in China, affecting at least eight children, and emphasizes the challenges in the supply chain and market dynamics for rare disease medications [1][2]. Group 1: Drug Supply and Market Dynamics - Nitisinone has been included in the national medical insurance for two years but is currently facing a supply shortage due to the cessation of production by the overseas manufacturer [2][5]. - Despite being listed as the first drug in the "Encouraged Generic Drug List" by the National Health Commission in 2019, no domestic generic versions have been launched to date [2][6]. - The small patient population for rare diseases makes it difficult for companies to justify the production costs, leading to a lack of motivation for generic manufacturers to produce these drugs even after patent expiration [2][4]. Group 2: Patient Impact and Treatment Challenges - The affected children, with the youngest being only six months old, require lifelong treatment with Nitisinone to prevent toxic accumulation, which can lead to severe health issues [3][4]. - Families are facing a dilemma as the available stock from the distributor can only provide limited doses, and there are no plans for new supplies [3][5]. - Alternative treatment options, such as liver transplantation, are available but are primarily for patients who do not respond to Nitisinone, highlighting the urgency of the drug's availability [3][4]. Group 3: Financial Implications for Patients - The cost of Nitisinone is significant, with the price for the 5mg formulation being 4488 yuan, and patients face high out-of-pocket expenses even with insurance coverage [6][8]. - If families resort to purchasing the drug through international channels, the costs can escalate dramatically, making it unaffordable for many [7][8]. - The potential for "clinical urgent product import" exists, but it may not be a viable long-term solution due to regulatory and financial constraints [9][10].