Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 45
- 试验地点
- 1
- 主要终点
- SMA EFFORT
研究概览
简要总结
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.
详细描述
Fatigue and fatigability are symptoms often experienced by people living with spinal muscular atrophy (pwSMA). Nusinersen is shown to extend survival and improve motor function, but fatigue and fatigability persist. Treated patients report changes in their ability to complete repetitive physical activities but a way for measuring this has not been created. While tests completed in the clinic by individuals with SMA highlight that fatigability is an important part of the SMA experience,we do not fully understand how pwSMA experience fatigability with everyday tasks. Anecdotal reports of pwSMA suggest a waning effect in endurance toward the end of their treatment window, however this change has not been measured.The SMA EFFORT is specifically designed for pwSMA and aims to better understand how they feel when completing daily physical activities.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies)
- •Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months
排除标准
- •An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and/or fatigability assessments
- •Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication
- •Receiving adjuvant and/or dual therapy (e.g., muscle-targeted, NMJ, or symptomatic treatments)
研究组 & 干预措施
Walkers
Participants with SMA who are able to walk without assistance.
干预措施: Observational (Other)
Sitters
Participants with SMA who are unable to walk without assistance, but are able to sit independently.
干预措施: Observational (Other)
Non-sitters
Participants with SMA who are unable to sit without assistance.
干预措施: Observational (Other)
结局指标
主要结局
SMA EFFORT
时间窗: Baseline, 1 week, 1 month
The SMA EFFORT is a perceived physical fatigability patient-reported outcome measure (PROM) that provides a percent (PPF%) total score to each participant based on their participation over the past 30 days.
次要结局
- Endurance Shuttle Nine-Hole Peg Test (ESNHPT)(Baseline)
- Revised Upper Limb Module (RULM)(Baseline)
- Hammersmith Functional Motor Scale Expanded (HFMSE)(Baseline)
- Six-Minute Walk Test (6MWT)(Baseline)
- Six-Minute Mastication Test (6MMT)(Baseline)
- Endurance Shuttle Box and Block Test (ESSBT)(Baseline)
研究者
Jacqueline Montes
Professor of Rehabilitation and Regenerative Medicine
Columbia University