乐乐喜欢画画，最近她自学了用绘画软件画画。 乐乐给同龄人手写的祝福语。 本周末将迎来杭州中考，尽管最近复习繁忙，但杭州市澎诚中学的学生依然挂念着他们的同学乐乐 （化名）。患罕见病的乐乐成绩不错，也一直在为冲刺中考努力，但因身体原因，最终她不得不放 弃"中考梦"。 乐乐的同学告诉记者，他们会带着乐乐的梦想走进考场；乐乐也送出祝福，祝所有考生都能考上心 仪的高中。 从"战战兢兢"到被爱包围 她有了和同学一起中考的梦想 聊起学校，乐乐脸上满是笑容，她说自己最喜欢英语，也很喜欢班主任宋老师，"偶尔还会和同学 聊聊宋老师的'小八卦'呢！" 话讲得多了，乐乐有些喘，加上不能久坐，妈妈把她抱回卧室休息。回到客厅，妈妈整理好情绪， 向记者回忆起乐乐特别的求学故事—— 乐乐1岁多时，我们发现她运动能力比其他孩子弱一些，花了两年时间求医，最终确诊为黏多糖贮 积症，这种罕见病会影响骨骼、内脏的发育。 产检一次没落下，孩子智力也没有问题，为什么偏偏给她套上这样的"枷锁"？虽然很痛苦，但我很 快收拾好心情，希望她和其他孩子一样去上学、去感受这个年纪应有的美好。 到了入学年龄，我们"战战兢兢"地找到学校，保证家长全程陪读并尽力照顾，只要 ...

Core Viewpoint - The launch of Luwo Meitini tablets marks a significant advancement in the treatment of rare diseases in China, specifically targeting LCH and NF1, providing new therapeutic options for patients [1][2][3]. Group 1: Product Overview - Luwo Meitini tablets are the first and only targeted drug approved in China for both adult LCH and NF1 in children aged 2 and above [1]. - The drug is an innovative small molecule developed by Fosun Pharma, selectively inhibiting MEK1/2 protein activity to block the abnormal activation of the MAPK signaling pathway, thereby suppressing tumor cell proliferation and inducing apoptosis [2]. Group 2: Clinical Data and Efficacy - Clinical trial data shows a median follow-up time of 15.1 months, with a best objective response rate (ORR) of 60.5% and a median time to response (TTR) of 4.7 months, indicating effective and controllable safety [2]. - NF1 is a rare autosomal dominant genetic disorder, with a significant disease burden that can lead to pain, mobility issues, and disfigurement, necessitating the development of targeted therapies [2]. Group 3: Future Prospects - In addition to the current indications, Luwo Meitini is undergoing clinical trials for low-grade gliomas, extracranial arteriovenous malformations, and pediatric LCH, with the potential to expand its application to more disease areas [4].

今年年初至今，创新药一跃成为港市涨幅最大的板块，超过30家创新药企股价实现翻倍，而北海康成-B(01228)以半个月2.5倍的股价涨幅名列前茅。 乘市场东风，流动性回暖 6月以来，北海康成在二级市场最大的变化除了高涨的股价外，便是显著放大的成交量，而这与今年港市整体流动性回暖息息相关。 据智通财经APP了解，今年以来，港股市场无论是从表现还是成交活跃度方面都明显提升，Wind数据显示，截止今年5月，恒生与恒生科技年内涨幅均超过 了15%，在全球主要指数中位列前茅。成交活跃度上，截至5月，年初以来港股主板日均成交额近2500亿港元，明显高于2024年全年日均1318亿和2023年日 均1049亿港元。在此背景下，一些港股所独有的行业结构如新消费、互联网、创新药在结构性行情下更是凸显优势。 智通财经APP观察到，6月以来，北海康成股价出现"旱地拔葱"式拉升，在6月的前11个交易日内，公司股价有5个交易日的单日涨幅超过15%，其中6月12日 和13日，北海康成股价分别大幅收涨26.54%和58.54%。得益于此，北海康成在今年6月月度股价最高涨幅达到252.94%。 北海康成之所以能在今年6月掀起一波大涨行情，离不 ...

| | 北海康成-B[01228] 2025-06-16 16:00 | | | | | 5PMA = | 10PMA = 20PMA = 30PMA = | | --- | --- | --- | --- | --- | --- | --- | --- | | 0.519 | | | | | | | | | 0.465 | | | | | | | | | 0.410 | | | | | | | | | 0.356 | | | | | | | | | 0.301 | | | | | | | | | 0.247 | | | | | | | | | 0.193 | | | | | | | | | 0.138 | | | | | | | | | 0.084 | | | | | | | | | 6296万 | 成交量:52063190 | | | | | | | | 4722万 | | | | | | | | | 3148万 | | | | | | | | | 1574万 | | | | | | | | | | 03-21 | 04-02 | 04-15 | 04-29 | 05-13 | 05-23 | 06-04 ...

"我们不是在乞求药物，而是在等待一个合理的解决方案。"在与罕见病患者沟通时，这样的声音反复响 起。这也是由于，这个世界上存在一些疾病，它们不仅鲜为人知，甚至连大多数普通人都未曾耳闻，即 便是医生，一生中也难得遇到几例，它们被统称为"罕见病"。 由于罕见病患者数量稀少，导致治疗药物研发成本难以分摊，这可能是罕见病治疗药物年费用高昂，相 当于普通家庭数十年收入的原因。根据最新数据，我国约有2000万罕见病患者，其中只有5%的患者能 够获得有效治疗。尽管近年来快速审评审批通道的建立使得更多罕见病药物得以在我国上市，然而，高 昂的研发成本、漫长的研发周期以及患者人数的稀少，共同导致了这些特效药对患者个体而言仍然价格 昂贵。 与此同时，尽管我国在罕见病用药保障方面取得了一定进展，例如将部分罕见病药物纳入医保目录，但 由于保障体系尚未完善，部分高值罕见病药物的医保报销仍面临挑战。在家庭支付能力有限的情况下， 患者可能面临无法承担高昂治疗费用的困境。 但，这丝毫不影响本土药企投入这一赛道的研发热情。眼下，中国头部创新药企正在推动罕见病药物研 发从"跟随式创新"向"全球领跑"跃迁，填补空白的新药背后，推动实现政策、资本与技术 ...

Company Overview - Beihai Kangcheng Pharmaceutical Co., Ltd. is a leading global biopharmaceutical company in China, focusing on rare diseases and dedicated to the research, development, and commercialization of innovative therapies [2] - The company has a portfolio of 10 drug assets with significant market potential, including 2 approved products and 8 in development, targeting common rare disease indications such as Hunter syndrome and other lysosomal storage diseases [2] Research and Development - The company is developing new and potentially curative gene therapies for rare genetic diseases, including Pompe disease, Fabry disease, Duchenne muscular dystrophy (DMD), and other neuromuscular diseases [2] - Beihai Kangcheng collaborates with leading researchers and biotechnology companies globally, including Apogenix, GCPharma, Mirum, WuXi Biologics, Privus, Washington University School of Medicine, and ScriptrGlobal [2] Management Team - The company is led by a management team with extensive experience in the rare disease sector, covering R&D, clinical development, regulatory affairs, business development, and commercialization [3] - 42% of the employees hold PhDs and/or MDs, and over 70% have experience working in multinational biopharmaceutical companies [3] - The management team has a strong track record of successfully obtaining approvals and commercializing rare disease therapies in major markets, including China and the United States [3]

Amicus Therapeutics (FOLD) FY Conference June 10, 2025 02:00 PM ET Speaker0 Bradley Campbell, the President and CEO of Anicus Therapeutics. Thank you so much for being here. Speaker1 Thank you for having us. Thanks to Goldman for hosting the conference. Nice to see everybody here today. Speaker0 Thank you. And to start off with a big picture question, can you give us a snapshot of your business today and your strategy with regard to commercial execution in the half of the year? Speaker1 Sure. Yes. At Amicus ...

托夫生注射液快速应用得益于国家罕见病防治战略及创新药政策。2025年政府工作报告提出"制定创新 药目录，支持创新药发展"，广州地区"穗新保-珠江药安心"商业健康保险已将其纳入目录。 北京东方丝雨渐冻人罕见病关爱中心理事长王金环表示："突破性疗法的出现为患者点燃了希望之 火。"研发企业渤健中国响应《"健康中国2030"规划纲要》，与多方协作推动药物可及。北京康盟慈善 基金会理事长柳莺肯定企业"积极推动托夫生注射液研发和上市，将科研成果转化为患者希望"。 采写：南都记者 王道斌 肌萎缩侧索硬化（ALS）俗称"渐冻症"，导致大脑和脊髓中运动神经细胞进行性死亡，患者全身肌肉逐 渐无力萎缩，最终多因吞咽或呼吸衰竭死亡，确诊后生存期通常为3至5年。SOD1作为中国ALS人群中 最常见的致病基因，其突变患者平均发病年龄约50岁，多从下肢起病。 南方医院神经内科蒋海山主任医师指出："渐冻症号称世界五大绝症之首，基因治疗可能是突破性治疗 方案。"2024年9月，反义寡核苷酸药物托夫生注射液在华获批，通过减少毒性SOD1蛋白合成与蓄积， 减缓运动神经元损伤。《2023肌萎缩侧索硬化（ALS）基因检测与咨询的循证共识指南》明确要求 ...

Summary of Acadia Pharmaceuticals (ACAD) FY Conference Call - June 09, 2025 Company Overview - **Company**: Acadia Pharmaceuticals (ACAD) - **Industry**: Biotechnology, specifically focusing on neurology and rare diseases Key Points and Arguments Management Changes and Strategic Priorities - Katherine Owen Adams has been with Acadia for eight months, implementing changes in the commercial structure, including the appointment of Tom Garner as CCO and Alison McMillan as head of the debut franchise [2][3] - Focus on accelerating clinical trial programs, with notable progress in the Prada Woolley trial, which is expected to complete earlier than anticipated [4] - Emphasis on both organic and inorganic growth strategies, including a deal signed with San Arena in December [5] Intellectual Property and Market Exclusivity - Acadia won a recent appeal on its composition of matter patent, extending exclusivity for NUPLAZID until October 2030, with total exclusivity lasting until February 2038 [8] - The company is prepared to compete with any potential generic formulations that may enter the market [10] Sales and Marketing Strategies - A new strategy to raise awareness of Parkinson's disease symptoms has been successful, leading to increased patient inquiries and the highest number of new prescriptions (NBRxs) since 2020 [14][15] - Direct-to-consumer campaigns have also contributed to patient growth, with a current market share of 20% for NUPLAZID [16] Patient Retention and Compliance - Over 50% of patients remain on NUPLAZID therapy after one year, with a reported 35% discontinuation rate in Q1, showing improvement in patient retention [30][32] - Management strategies have been enhanced to address gastrointestinal side effects, leading to better patient compliance [33] Pipeline Developments - ACP 204, a new five HT2A inverse agonist, is being developed to address limitations of NUPLAZID, with ongoing studies in Alzheimer's disease psychosis and Lewy body dementia psychosis [22][24][55] - Upcoming phase two data for ACP 204 is expected mid-next year, with a focus on efficacy and safety in a complex patient population [46][51] Regulatory and Geographic Expansion - Acadia has submitted for regulatory approval of debut in the EU, with potential approval expected in Q1 next year [34] - Plans for a phase III study in Japan are underway, indicating a strategic focus on international markets [35] Financial Position and Business Development Strategy - The company has a strong financial position with over $680 million in cash, allowing for continued investment in business development and pipeline funding [60][61] - Acadia aims to expand its focus from neurology to other rare diseases, leveraging management's experience in rare disease markets [59] Upcoming Events - An R&D Day is scheduled to showcase early data from pipeline molecules, indicating a commitment to transparency and stakeholder engagement [57] Additional Important Insights - The company is optimistic about the future growth of NUPLAZID, citing potential for increased market penetration and awareness among healthcare providers and caregivers [17][18] - The unmet need in the Alzheimer's and Lewy body dementia populations is significant, with no approved therapies currently available, highlighting the potential impact of Acadia's pipeline [53][54]

Summary of GeneDx Conference Call Company Overview - GeneDx was established 25 years ago at the National Institutes of Health, focusing on diagnosing difficult cases, particularly in rare diseases [4][5] - The company has built the largest rare disease data asset in the U.S., with over 800,000 exomes and genomes and more than 6,100,000 phenotypic data points [5][6] Strategic Initiatives - GeneDx aims to reduce the diagnostic odyssey, which currently takes about five years, to weeks or even hours [5][6] - The company is focusing on increasing utilization in pediatric outpatient settings and NICUs [6] Differentiation and Market Position - GeneDx's tests are differentiated by their extensive data assets, which include a highly representative database and a robust phenotypic data set [7][8] - Approximately 60% of the time, both parents are tested, enhancing the accuracy of diagnoses [7] - The company claims an 80% market share among expert geneticists, with significant growth potential in pediatric neurology and NICU settings [14][16] Market Penetration - In pediatric neurology, GeneDx has only penetrated about 14% of the patient population, indicating substantial growth opportunities [16] - In NICUs, fewer than 5% of babies currently receive genetic testing, despite studies showing that 60% would benefit from it [19][22] - GeneDx aims to increase its NICU testing to approximately 225,000 tests annually, targeting a quarter million children by 2026-2027 [24] Product Development and Testing - GeneDx has launched a two-day ultra-rapid turnaround time for genome testing, which is expected to enhance market uptake [25][26] - The company is expanding its testing indications to include conditions like cerebral palsy and hearing loss, focusing on the best clinical outcomes [29][30] Financial Performance and Cost Management - GeneDx has achieved profitability and aims for continued profitable growth, focusing on areas with sufficient reimbursement [17][18] - The company has reduced denial rates from 65% to less than 50% for pediatric neurologists, improving reimbursement rates and gross margins [48][49] - Current gross margins for exome and genome testing are around 80%, with ongoing efforts to reduce costs further through automation and technology [54][56] Future Growth and Market Strategy - GeneDx plans to expand into adult genetic testing as reimbursement pathways develop, aiming for early diagnosis across all age groups [62][63] - The company is also exploring monetization of its extensive data set for biopharma, aiming to contribute to drug discovery and clinical trial development [64][66] Conclusion - GeneDx is positioned as a leader in genetic testing for rare diseases, with a strong focus on data-driven diagnostics and expanding market opportunities in pediatric and adult settings. The company is committed to improving patient outcomes through faster and more accurate testing while maintaining a focus on profitability and cost management.