"作为一名医生，同时也是罕见病患儿的父亲，我深知这个群体面临双重困境，既难以确诊，又无药可 治。"日前，阿斯利康全球高级副总裁Gianluca Pirozzi博士在接受《每日经济新闻》记者专访时如是袒 露心声。 统计数据显示，目前已知罕见病超1万种，但90%缺乏有效治疗手段，80%为遗传性疾病且多在儿童期 发病，平均诊断周期长达4.8年。这一严峻现状正在被全球医药巨头与中国市场深度绑定所改变。 首先是临床试验速度与质量领先。Gianluca Pirozzi告诉记者，在阿斯利康的大部分三期临床试验中，中 国都是首个参与方，且患者入组速度全球领先。"中国拥有规模庞大的临床研究中心，能将分散在各地 的患者有效聚集，这解决了罕见病临床试验最大的难题，患者招募。"更重要的是，中国中心提供的数 据质量与全球标准完全接轨，"速度与质量的双重优势，让中国成为药物开发的加速器"。 其次是前沿技术创新与转化领先。在Gianluca Pirozzi看来，中国在细胞治疗、基因治疗、IIT临床研究 （研究者发起的临床研究）等领域已走在全球前列。"这些技术突破不仅能加速本土研发，更能为全球 提供创新思路。"他解释道，技术创新与数据积累形 ...

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 [2][3] - China is evolving from a participant in global rare disease research to a "breakthrough engine," leveraging its unique advantages in clinical trial efficiency, technological innovation, and disease data accumulation [2][4] Rare Disease Landscape - There are over 10,000 known rare diseases, with 90% lacking effective treatments and 80% being genetic, often manifesting in childhood, making pediatric rare disease drug development urgent yet complex [3][4] - The definition of rare diseases varies significantly across countries, complicating research and development efforts, particularly in China, where a clear regulatory list of rare diseases is still absent [3][4] 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, addressing the recruitment challenges faced in rare disease studies [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] AstraZeneca's Strategy in Rare Diseases - AstraZeneca has established partnerships with 14 Chinese biopharmaceutical companies to enhance its rare disease research, 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] Clinical Developments and Future Outlook - AstraZeneca has received approval for seven rare disease drugs globally and has ten ongoing Phase III clinical and regulatory review projects across various therapeutic areas [8][9] - The year 2025 is anticipated to be significant for AstraZeneca's rare disease research, with key Phase III study results expected to be released [9][10] - AstraZeneca is actively building a diagnostic and treatment ecosystem in China, having established 138 rare disease treatment centers to ensure standardized care [9][10] Patient Engagement and Accessibility - The company involves patients and caregivers early in the research process to ensure that clinical trials address the most critical disease improvement indicators [10] - AstraZeneca is advocating for the inclusion of rare disease drugs in national insurance programs to enhance accessibility for patients, while also calling for the establishment of special funds to alleviate patient financial burdens [10]

每经记者｜甄素静 每经编辑｜陈俊杰 Gianluca Pirozzi博士表示，全球罕见病诊疗面临诊断难、用药贵的痛点，中国凭借临床试验入组效率、前沿技术创新及疾病数据积累的独特优势，已从全球 研发版图的重要参与者升级为"突破引擎"，而针对高致死率疾病的高价值药物策略，正破解罕见病研发的商业可持续性难题。 罕见病定义差异进一步加剧了研发挑战。Gianluca Pirozzi介绍，不同国家和地区对罕见病的认定标准存在显著差异，中国目前尚未出台监管机构明确的罕见 病清单，这对制药企业研发方向选择带来了一定难度。这种差异与政策衔接问题，在世界罕见病保障体系中普遍存在，从国家部门间到地方之间均有体现。 受访者供图 以渐冻症为例，Gianluca Pirozzi指出，这类疾病至今缺乏有效治疗药物，成为医药研发领域的"硬骨头"。 "作为一名医生，同时也是罕见病患儿的父亲，我深知这个群体面临双重困境，既难以确诊，又无药可治。"日前，阿斯利康全球高级副总裁Gianluca Pirozzi 博士在接受《每日经济新闻》记者专访时袒露心声。 万种疾病九成无药，诊断困境凸显医疗缺口 "患者群体分散、疾病机制认知不足、缺乏合适的动物模型 ...