贝克尔肌肉萎缩症:改变衰退的自然史能否帮助解决未满足的医疗需求?

Amanda Barrell
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摘要

本次研讨会是在美国南卡罗来纳州查尔斯顿举行的第28届世界肌肉学会(WMS)国际年会的一部分。演讲者回顾了贝克尔肌肉营养不良症(Becker)的自然病史,概述了研究药物EDG-5506的ARCH开放标签研究12个月的一线数据,并旨在将这些结果与临床相结合。 贝克尔肌萎缩症是一种严重的罕见疾病,对患者及其护理人员的身体、情感、经济和社会影响巨大。一旦功能开始衰退,患有这种渐进性X连锁遗传疾病的男性患者的肌肉会不可逆转地不断流失,最终导致丧失行动能力和心肺功能。 荷兰莱顿大学医学中心(LUMC)儿童和成人神经学家埃里克-尼克斯(Erik Niks)在讨论了该病的病因后,介绍了自然史研究的结果。研究结果表明,虽然开始衰退的年龄各不相同,但一旦开始衰退,患者的功能往往会持续下降,每年约下降 1.2-1.3 个 "北斗星移动评估"(NSAA)点。他认为,这一发现与使用核磁共振成像作为疾病进展生物标志物的数据相结合,为临床试验设计提供了一个循证框架。随后,美国科罗拉多州博尔德市Edgewise Therapeutics公司临床开发副总裁Sam Collins介绍了ARCH研究的12个月初步数据。该研究发现,EDG-5506的耐受性良好,而且重要的是,包括NSAA在内的功能评估结果趋于稳定,并有改善的趋势,同时进展生物标志物(包括与肌肉损伤相关的生物标志物)也出现了快速、持续和显著的下降。美国盖恩斯维尔佛罗里达大学(UF)高级治疗健康中心和鲍威尔基因治疗中心主任巴里-伯恩(Barry Byrne)在介绍ARCH研究数据时,确切地解释了NSAA状态的下降是如何转化为改变生命的功能丧失的。他说,稳定功能,甚至降低功能衰退的速度,是患者的一个重要目标。
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Becker Muscular Dystrophy: Could Altering the Natural History of Decline Help Tackle Unmet Medical Need?
This symposium was held as part of the 28th International Annual Congress of the World Muscle Society (WMS), held in Charleston, South Carolina, USA. Speakers reviewed the natural history of Becker muscular dystrophy (Becker), outlined the top line, 12-month data from the ARCH open label study of investigational agent EDG-5506, and aimed to put those results into clinical context. Becker is a serious rare disease with significant physical, emotional, financial, and social impact on the affected individuals and their caregivers. Once function begins to decline, males affected by the progressive X-linked genetic disorder continue to irreversibly lose muscle, ultimately leading to the loss of ambulatory and cardiopulmonary function. After discussing the aetiology of the condition, Erik Niks, Paediatric and Adult Neurologist, Leiden University Medical Center (LUMC), the Netherlands, presented the findings of natural history studies. They showed that while the age at which decline begins varies, once it does start, patients tend to experience a consistent decline in function equivalent to around 1.2–1.3 North Star Ambulatory Assessment (NSAA) points each year. This finding, combined with data on using MRI as a biomarker of disease progression, provides an evidence-based framework for clinical trial design, he argued. Sam Collins, Vice President of clinical development, Edgewise Therapeutics, Boulder, Colorado, USA, then presented topline 12-month data from the ARCH study. It found that EDG-5506 was well tolerated, and, importantly, recorded the stabilisation of functional assessments, including the NSAA, with a trend towards improvement, as well as rapid, sustained, and significant decreases in biomarkers of progression, including those related to muscle damage. Putting the ARCH study data into context, Barry Byrne, Director of the Health Center for Advanced Therapeutics and Powell Gene Therapy Center, University of Florida (UF), Gainesville, USA, explained exactly how declining NSAA status translated into life-altering function loss. Stabilising function, or even reducing the speed of decline, was an important goal for patients, he said, adding that meeting it could help to address significant unmet medical need.
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