Written by:
Gianluca Pirozzi
SVP, Head of Development, Regulatory and Safety, Alexion AstraZeneca Rare Disease
罕见病总共影响着全球数百万人——比癌症和阿尔茨海默病加起来还要多——然而，大多数罕见病的治疗方案有限或根本没有.1-4 But why is this? Research in this space often comes with additional complexity, 因为个体患者群体很小，而且许多罕见疾病还没有得到很好的了解. 通过遵循科学来寻找创新的解决方案，并通过直接从最好的知识来源(罕见病社区本身)整合有价值的见解，澳门第一赌城在线娱乐致力于引领罕见病的研究和开发(R&D).
Recognising the challenges in rare disease research
Science is hard and requires tenacity, 勇气和好奇心——对于罕见疾病的研究和临床开发尤其如此. 目前已知的罕见病大约有1万种，但获得批准的治疗方法不到10%.5
推进罕见病的临床研究可能意味着从一开始就进入未知领域, 通常，与更常见的疾病相比，对自然史或潜在生物学的了解有限. Clearly defined clinical trial roadmaps and regulatory pathways seldom exist. Endpoints – or defined clinical measures – often haven’t been established. 而且患者群体很小且分布广泛，这使得研究一种疾病变得困难. 延迟诊断或误诊会使临床试验难以找到潜在的参与者，从而进一步加剧挑战.
Embracing a patient-centric approach
罕见病的临床创新需要深厚的专业知识和跨多个小组的密切合作, including with patient communities, key opinion leaders and specialist clinicians. It’s not enough to understand only the biology of the disease; it’s critical to also understand the impact it has on the lives of patients and their families. 病人的观点帮助澳门第一赌城在线娱乐了解他们的独特需求和他们面临的挑战, so we can design and deliver clinical trials that are suitable for them.
在澳门第一赌城在线娱乐针对神经脊髓炎视谱障碍(NMOSD)患者的一项试验中, for example, we navigated multiple hurdles to ensure patients’ needs were prioritised.
NMOSD是一种罕见的自身免疫性疾病，其特点是复发，可导致累积性残疾和过早死亡.6 With approved and effective treatment options available, 在试验中加入安慰剂组并不符合患者的最佳利益, as it could increase their risk of long-term complications. As a result, 一项比较研究性治疗与安慰剂的随机对照研究并不是一个选择.
This disease also has a low diagnosed prevalence, 这使得比较两种不同疗法的传统面对面试验变得不可行的. 这是因为试验所需的患者数量将超过患有这种疾病的人数.
In response, 澳门第一赌城在线娱乐向监管机构提出了一项创新的开放标签试验设计的建议，该设计利用了来自先前该适应症试验的历史对照组(而不是安慰剂组)。. Using extensive statistical analyses, we would account for any potential differences of treatment effect. 全球卫生当局一致认为，以这种方式设计试验将保持科学的严谨性，同时将患者的需求放在首位.
Because of this innovative, patients-first trial design, there was significant interest from the patient community. 创新和协作的临床试验设计方法有助于应对小患者群体的挑战，同时仍然评估对社区最重要的终点.
Advancing the science to benefit the rare disease community
Working in rare diseases requires researchers to think differently about R&D, 澳门第一赌城在线娱乐将继续致力于通过对患者体验的深刻理解而产生的专业知识来引领潮流.
澳门第一赌城在线娱乐不断努力设计临床试验，以反映患者和护理人员的生活经验，并减少参与的负担. 澳门第一赌城在线娱乐是第一个针对罕见疾病调整患者摩擦系数的公司，这有助于澳门第一赌城在线娱乐对评估和减轻患者负担的方式进行标准化, evaluate trial design and protocol feasibility, and identify factors to improve the performance and efficiency of trials.7
We are also committed to shortening the diagnostic journey, which is one of the most significant challenges facing the rare disease community.4 Through our collaboration with Rady Children’s Institute for Genomic Medicine, 澳门第一赌城在线娱乐正在为他们提供战略领导和技术专长，以加强和扩大针对数百种遗传疾病的创新新生儿筛查技术, so patients can get answers faster.
澳门第一赌城在线娱乐继续利用澳门第一赌城在线娱乐在整个社区的深厚专业知识和关系，开拓新方法，加速下一代治疗方法的发现和开发.
