University of California Davis Health, Davis, CA, USA.
Parent Project Muscular Dystrophy, Washington, DC, USA.
J Neuromuscul Dis. 2024;11(2):499-523. doi: 10.3233/JND-230219.
Duchenne muscular dystrophy (DMD) and related dystrophinopathies are neuromuscular conditions with great unmet medical needs that require the development of effective medical treatments.
To aid sponsors in clinical development of drugs and therapeutic biological products for treating DMD across the disease spectrum by integrating advancements, patient registries, natural history studies, and more into a comprehensive guidance.
This guidance emerged from collaboration between the FDA, the Duchenne community, and industry stakeholders. It entailed a structured approach, involving multiple committees and boards. From its inception in 2014, the guidance underwent revisions incorporating insights from gene therapy studies, cardiac function research, and innovative clinical trial designs.
The guidance provides a deeper understanding of DMD and its variants, focusing on patient engagement, diagnostic criteria, natural history, biomarkers, and clinical trials. It underscores patient-focused drug development, the significance of dystrophin as a biomarker, and the pivotal role of magnetic resonance imaging in assessing disease progression. Additionally, the guidance addresses cardiomyopathy's prominence in DMD and the burgeoning field of gene therapy.
The updated guidance offers a comprehensive understanding of DMD, emphasizing patient-centric approaches, innovative trial designs, and the importance of biomarkers. The focus on cardiomyopathy and gene therapy signifies the evolving realm of DMD research. It acts as a crucial roadmap for sponsors, potentially leading to improved treatments for DMD.
杜氏肌营养不良症(DMD)和相关的肌营养不良蛋白病是神经肌肉疾病,存在巨大的未满足的医疗需求,需要开发有效的治疗方法。
通过将进展、患者登记、自然史研究等纳入综合指导,帮助赞助商开发治疗 DMD 疾病谱的药物和治疗性生物产品。
本指导原则源于 FDA、Duchenne 社区和行业利益相关者的合作。它采用了一种结构化的方法,涉及多个委员会和董事会。自 2014 年成立以来,该指导原则不断修订,纳入了基因治疗研究、心脏功能研究和创新临床试验设计的见解。
该指导原则提供了对 DMD 及其变体的更深入了解,重点关注患者参与、诊断标准、自然史、生物标志物和临床试验。它强调以患者为中心的药物开发、肌营养不良蛋白作为生物标志物的重要性以及磁共振成像在评估疾病进展中的关键作用。此外,该指导原则还涉及 DMD 中心肌病的重要性和基因治疗的新兴领域。
更新后的指导原则提供了对 DMD 的全面了解,强调以患者为中心的方法、创新的试验设计和生物标志物的重要性。对心肌病和基因治疗的关注标志着 DMD 研究的不断发展领域。它是赞助商的重要路线图,可能会为 DMD 带来更好的治疗方法。