Rare diseases collectively impact millions of people around the globe — more people than cancer and Alzheimer’s Disease combined — yet most of these conditions have limited or no treatment options.1-4 But why is this? 这个领域的研究通常会带来额外的复杂性, because individual patient populations are small and many rare diseases are not well understood. By following the science to find innovative solutions and by integrating valuable insights directly from the best source of knowledge possible – the rare disease community itself – we are committed to leading the way in rare disease research and development (R&D).
认识到罕见病研究面临的挑战
科学是艰苦的，需要坚韧不拔, grit and curiosity — something that is especially true for rare disease research and clinical development. There are approximately 10,000 known rare diseases, yet less than 10% have approved treatments.5
Advancing clinical research in rare diseases can mean navigating uncharted territory from the beginning, as often there is limited knowledge of the natural history or underlying biology compared with more common diseases. 明确定义的临床试验路线图和监管途径很少存在. 终点——或定义的临床测量——通常还没有建立. And patient populations are small and widely dispersed, making it difficult to study a condition. Delayed diagnoses or misdiagnoses can further exacerbate challenges by making it difficult to find potential participants for clinical trials.
采用以患者为中心的方法
临床创新 in rare diseases requires deep expertise and close collaboration across multiple groups, 包括患者群体, 主要意见领袖和专业临床医生. 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. Patient perspectives help us understand their unique needs and the challenges they face, 所以澳门葡京赌博游戏可以设计和提供适合他们的临床试验.
In one of our trials for patients living with neuromyelitis optica spectrum disorder (NMOSD), for example, 澳门葡京赌博游戏克服了多个障碍，以确保患者的需求得到优先考虑.
NMOSD is a rare autoimmune disease characterised by relapses that can lead to cumulative disability and premature death.6 有批准和有效的治疗选择, including a placebo arm in the trial would not have been in the patients’ best interest, 因为这可能会增加长期并发症的风险. As a result, a randomised control study comparing an investigational treatment with placebo was not an option.
该病的确诊患病率也很低, making a traditional head-to-head trial comparing two different therapies unfeasible. This is because the number of patients needed for the trial would have exceeded the number of people living with the disease.
In response, we approached regulators with a proposal for an innovative open-label trial design that utilised a historical control group from a prior trial for this indication (instead of a placebo group). 使用广泛的统计分析, 澳门葡京赌博游戏将考虑治疗效果的任何潜在差异. Global health authorities agreed that designing the trial in this way would maintain scientific rigour while putting patients’ needs first.
因为这种创新, 患者优先试验设计, 患者群体对此非常感兴趣. The creative and collaborative clinical trial design approach helped navigate challenges of a small patient population while still evaluating endpoints that mattered most to the community.
推动科学发展，造福罕见病群体
研究罕见疾病需要研究人员以不同的方式思考R&D, and we remain committed to leading the way through expertise that stems from a deep understanding of the patient experience.
We continually strive to design clinical trials that reflect patients’ and caregivers’ lived experiences and reduce the burden of participation. We were the first to adapt the Patient Friction Coefficient for rare diseases – helping us standardise how we assess and reduce patient burden, 评估试验设计和方案的可行性, 并找出提高试验性能和效率的因素.7
澳门葡京赌博游戏还致力于缩短诊断过程, 罕见病社区面临的最重大挑战之一是什么.4 通过澳门葡京赌博游戏与雷迪儿童基因组医学研究所的合作, we are providing strategic leadership and technical expertise as they work to enhance and scale innovative newborn screening technology for hundreds of genetic diseases, 这样病人就能更快地得到答案.
We continue to harness our deep expertise and relationships across the community to pioneer new approaches to accelerate the discovery and development of the next generation of therapeutics.
