专访阿斯利康全球高级副总裁Gianluca Pirozzi：中国正成为全球罕见病研发“突破引擎”，高价值药物有望构建商业闭环

Core Insights - The article highlights the dual challenges faced by rare disease patients, including difficulties in diagnosis and lack of effective treatments, with over 90% of known rare diseases having no available therapies [1][3] - China is evolving from a participant to a "breakthrough engine" in the global rare disease research landscape, leveraging its unique advantages in clinical trial efficiency, technological innovation, and disease data accumulation [1][4] Group 1: Rare Disease Landscape - There are over 10,000 known rare diseases, with 90% lacking effective treatments and 80% being genetic, often manifesting in childhood, leading to urgent and complex pediatric drug development needs [3][4] - The definition of rare diseases varies significantly across countries, complicating research and development efforts, particularly in China, which currently lacks a clear regulatory list of rare diseases [3][4] - The challenges in rare disease research include dispersed patient populations, insufficient understanding of disease mechanisms, and a lack of suitable animal models and biomarkers [3][4] Group 2: China's Role in Rare Disease Research - China has become a leader in clinical trial speed and quality, with many of AstraZeneca's Phase III trials involving rapid patient recruitment from its extensive clinical research centers [4][5] - The country is at the forefront of technological innovations in cell and gene therapies, which not only accelerate local research but also provide innovative ideas for global applications [5][6] - China's healthcare system allows for efficient collection of disease registry data, crucial for understanding disease progression and setting treatment endpoints [5][6] Group 3: AstraZeneca's Strategy and Collaborations - AstraZeneca has engaged in numerous collaborations with Chinese biopharmaceutical companies, focusing on unmet clinical needs and differentiated project advantages [6][7] - The company emphasizes the importance of developing transformative therapies for rare diseases, which can create significant clinical value and support sustainable business models [7][8] - AstraZeneca has approved seven rare disease drugs globally and has ten ongoing Phase III clinical and regulatory review projects across various therapeutic areas [7][8] Group 4: Future Outlook and Patient Engagement - AstraZeneca anticipates a significant release of rare disease research results in 2025, with ongoing studies in hemophilia and other conditions involving Chinese patients [8][9] - The company is actively building a diagnostic and treatment ecosystem in China, having established 138 rare disease treatment centers to ensure standardized care [8][9] - AstraZeneca involves patients and caregivers early in the research process to better understand disease improvement metrics and streamline clinical trial participation [9] Group 5: Access and Affordability Challenges - AstraZeneca has three innovative rare disease drugs approved in China, with some included in the national medical insurance catalog, enhancing patient access [9] - The company advocates for the establishment of special funds for rare diseases to alleviate patient financial burdens, recognizing that insurance alone cannot cover all high-value innovative drugs [9] - AstraZeneca remains optimistic about the commercial prospects in China, anticipating that improved policies and payment systems will unlock market potential [9]