一种定性,混合方法的方法,以达成共识,功能,疲劳和疲劳的结果在青少年和成年人生活与脊柱肌肉缩
Jacqueline Glascock1, Lisa T Belter1, Meghan Moore Burk2
1Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.
Orphanet journal of rare diseases
|October 17, 2025
概括
脊柱肌缩 (SMA) 患者和专家一致认为,日常生活活动 (ADL) 最好衡量功能变化. 这一发现支持制定SMA评估的核心结果措施.
科学领域:
- 神经肌肉疾病 神经肌肉疾病
- 测量临床结果的措施.
- 患者报告的结果
背景情况:
- 脊髓肌肉缩 (SMA) 是一种由SMN1基因突变引起的遗传神经肌肉疾病,导致运动神经元损失和逐渐肌肉衰弱.
- 已批准的疾病修饰疗法存在于SMA,更多正在开发中,需要验证的结果措施.
- 评估运动功能,疲劳和疲劳性对于评估SMA青少年和成人治疗疗效至关重要.
研究的目的:
- 确定评估脊髓肌肉缩 (SMA) 青少年和成人疾病状况的最有效的结果措施.
- 为了确定哪些结果措施最好地捕捉到运动功能的有意义变化,感知疲劳和感知疲劳.
主要方法:
- 经过修改的Delphi方法调查了SMA的主要论领袖,以确定潜在的结果措施.
- 两个成人讨论小组 (非健行和健行) 提供了关于日常生活 (ADL) 重要活动和疲劳影响的观点.
主要成果:
- 关键意见领袖和SMA患者确定了以ADL为重点的患者报告的结果指标,作为评估功能,疲劳和疲劳的最佳指标.
- 成年参与者优先考虑与独立和尊严相关的ADL,强调疲劳对他们的表现产生重大影响.
结论:
- 在SMA专家和患者之间存在共识,即ADL是评估功能,疲劳和疲劳能力的敏感和有影响力的结果指标.
- 这项研究为建立关于美国SMA评估核心结果措施的共识提供了基础.
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