阿斯利康Gianluca Pirozzi博士：中国成全球罕见病研发“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 lacking any therapeutic options [1][2] - 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][3] Diagnosis Challenges - The number of known rare diseases has increased from 7,000 to over 10,000 due to advancements in gene sequencing, yet approximately 90% still lack treatment [2] - 80% of rare diseases are genetic and often manifest in childhood, making pediatric rare disease drug development a pressing and complex task [2] - Variations in the definition of rare diseases across countries complicate research efforts, with China lacking a clear regulatory list of rare diseases [2] China's Role in Rare Disease Research - China is recognized for its leading clinical trial speed and quality, with many Phase III trials involving Chinese participants [3] - The country is at the forefront of technological innovations in cell and gene therapies, which can accelerate local research and provide global insights [3] - China's healthcare system allows for efficient disease data collection, crucial for understanding disease progression and treatment endpoints [3] Collaborations and Partnerships - AstraZeneca has established collaborations with top Chinese hospitals to create disease excellence centers focusing on rare kidney and neurological diseases [4] - The company has engaged in acquisitions and partnerships with 14 Chinese biotech firms to enhance its rare disease research capabilities [5] Strategic Focus on Rare Diseases - AstraZeneca's commitment to rare disease research is driven by the potential for transformative therapies that meet significant unmet needs, despite the high costs and small patient populations [5][6] - The company has developed drugs that can significantly reduce mortality rates in conditions like hemolytic uremic syndrome, emphasizing the clinical value of these treatments [6] Pipeline and Future Outlook - AstraZeneca has seven approved rare disease drugs and ten ongoing Phase III clinical trials across various therapeutic areas [6] - The year 2025 is anticipated to be significant for the release of numerous rare disease research outcomes [7] Patient-Centric Approach - AstraZeneca involves patients and caregivers early in the research process to ensure that clinical trials address the most critical disease improvement metrics [8] - The company collaborates with global patient associations to enhance patient engagement and communication with regulatory bodies [8] Accessibility and Affordability - AstraZeneca has three innovative rare disease drugs approved in China, with some included in the national medical insurance catalog, improving patient access [9] - The company advocates for the establishment of rare disease-specific funding to alleviate patient financial burdens, recognizing that insurance alone cannot cover all costs [9] - Optimism is expressed regarding the commercial prospects in China as policies improve and more rare disease drugs are included in insurance coverage [9]