临床和患者报告结果在多系统蛋白质病症中的有效性和可靠性 1
Lindsay N Alfano1,2, Megan A Iammarino1, Natalie F Reash1
1Jerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Annals of clinical and translational neurology
|April 28, 2025
概括
功能性临床结果评估和患者报告的结果是可靠的,用于测量具有瓦洛含蛋白 (VCP) 相关的多系统蛋白质病变1 (MSP1) 的个体的能力. 基于家庭的测试提高了获得护理和临床试验的机会.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 临床研究 临床研究
背景情况:
- 含有瓦洛辛蛋白 (VCP) 的多系统蛋白质病变1 (MSP1) 是一种由VCP基因变异引起的遗传疾病.
- MSP1呈现出多种表型,包括肌肉病,帕杰特骨疾病,前性痴呆症,ALS和帕金森症.
研究的目的:
- 为了验证MSP1.1.的功能性临床结果评估 (COA) 和患者报告的结果 (PRO).
- 在临床和远程环境中评估COAs的测试-重新测试可靠性.
- 为MSP1.1提供临床护理实践和未来临床试验设计的信息.
主要方法:
- 患有MSP1的患者在为期2天的现场访问和为期2天的远程访问期间完成了COA和PRO.
- 评估是根据安全性,可行性和参与者的功能来选择的.
- 收集了46名患者的数据,其中包括一个只有远程的队列.
主要成果:
- 功能性COA与PRO显著相关 (rho>0.5,p <0.001),反映了疾病持续时间.
- 在现场和远程环境中,COA的性能显示出高可靠性和安全性 (ICC > 0.7,p < 0.001).
- 在不同的遗传变异组中观察到四肢参与的变化.
结论:
- 功能性COA和PRO是评估MSP1.1个体的有效和可靠工具.
- 远程测试促进了公平获得临床护理和参与研究的机会.
- 持续的纵向数据收集将决定结果的敏感性和随着时间的推移有意义的变化.
相关概念视频
01:21Overview of Protein Metabolism
506
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
506
02:18The Proteasome
8.3K
Eukaryotic cells can degrade proteins through several pathways. One of the most important amongst these is the ubiquitin-proteasome pathway. It helps the cell eliminate the misfolded, damaged, or unwarranted cytoplasmic proteins in a highly specific manner.
In this pathway, the target proteins are first tagged with small proteins called ubiquitin. A series of enzymes carry out the ubiquitination of the target proteins - E1 (ubiquitin-activating enzyme), E2 (ubiquitin-conjugating enzyme), and E3...
In this pathway, the target proteins are first tagged with small proteins called ubiquitin. A series of enzymes carry out the ubiquitination of the target proteins - E1 (ubiquitin-activating enzyme), E2 (ubiquitin-conjugating enzyme), and E3...
8.3K