背景:脊髓性肌萎缩症(SMA)是一种进行性神经肌肉疾病,可导致肌肉无力,是全球婴儿死亡的主要遗传原因。虽然没有确定的治疗方法,自2018年以来,加拿大批准了3种基于基因的疗法,这显著改善了SMA患儿的肌肉功能.有了这个,目前尚无基于证据的康复干预措施,关于基因疗法和康复综合效果的证据也很少.
目的:该方案描述了评估每周两次门诊康复干预的可行性的方法,重点是粗大和精细运动功能,以告知最终临床试验的方法和样本量。
方法:我们将进行一项单中心非随机试点和可行性试验,以探索对6个月至3岁儿童的门诊康复干预,并采用基因疗法治疗SMA。参与研究将在25周内进行,进行基线评估访视,然后进行为期12周的干预期和为期12周的非干预期.康复干预包括每周物理和职业治疗,为期11周。评估将在基线(第0周)进行,干预结束或提前戒断(第12周),和随访(第24周)。预先确定的可行性指标将评估整个过程的研究可行性(招聘率,资格标准,坚持率,保留率,问卷适用性,和可接受性),资源(时间,实施,和执行),管理(材料和数据),和科学(安全,耐受性,和初步功效)域。
结果:该项目于2022年3月资助,数据将在2023年3月至2023年12月之间收集。数据分析将在2024年1月至2024年3月之间进行,预计在2024年秋季发布。如果可行性试验的方案符合为可行性指标规定的成功标准,则认为该方案是成功的。特定感兴趣的指标包括所有过程指标,以及时间。将报告探索性指标。务实,可行性试验的结果将为方案的变更和确定的多中心试验的启动提供信息.
结论:这种每周两次的新型门诊康复干预措施将是满足对接受基因疗法治疗的SMA患儿进行循证康复干预的需要的第一步。预期一致和强化的康复治疗将增加在该人群中观察到的功能增益。在未来,一项明确的试验将衡量干预措施的疗效.
背景:ClinicalTrials.govNCT05638750;https://clinicaltrials.gov/study/NCT05638750。
■DERR1-10.2196/46363。
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that causes muscle weakness and is the leading genetic cause of infant mortality worldwide. While no definitive cure exists, the approval of 3 genetic-based therapies in Canada since 2018 has led to significant improvements in muscle function for children with SMA. With that, there are no evidence-based rehabilitation interventions and minimal evidence on the combined effects of genetic-based therapies and rehabilitation.
OBJECTIVE: This protocol describes the methodology to assess the feasibility of a twice-weekly outpatient rehabilitation intervention focusing on gross and fine motor function to inform the methodology and sample size of a definitive clinical trial.
METHODS: We will conduct a single-center nonrandomized pilot and feasibility trial to explore an outpatient rehabilitation intervention for children aged 6 months to 3 years with SMA treated with genetic-based therapies. Participation in the study will occur over a 25-week period, with a baseline assessment visit followed by a 12-week intervention period and a 12-week nonintervention period. The rehabilitation intervention comprises weekly physical and occupational therapy for 11 weeks. Assessments will occur at baseline (week 0), end of intervention or early withdrawal (week 12), and follow-up (week 24). Predetermined feasibility indicators will evaluate study feasibility across process (recruitment rates, eligibility criteria, adherence rates, retention rates, questionnaire suitability, and acceptability), resource (time, implementation, and execution), management (materials and data), and scientific (safety, tolerability, and preliminary efficacy) domains.
RESULTS: This project was funded in March 2022, and data will be collected between March 2023 and December 2023. Data analysis will occur between January 2024 and March 2024, with publication expected in the fall of 2024. The protocol for the feasibility trial will be considered successful if it meets the success criteria set out for the feasibility indicators. Indicators of specific interest include all process indicators, as well as time. Exploratory indicators will be reported. Pragmatically, the results of the feasibility trial will inform changes to the protocol and the start-up of a definitive multisite trial.
CONCLUSIONS: This novel twice-weekly outpatient rehabilitation intervention will be the first step toward filling the need for an evidence-based rehabilitation intervention for children with SMA treated with genetic-based therapies. It is expected that consistent and intensive rehabilitation therapy will augment functional gains being observed in this population. In the future, a definitive trial will measure the efficacy of the intervention.
BACKGROUND: ClinicalTrials.gov NCT05638750; https://clinicaltrials.gov/study/NCT05638750.
UNASSIGNED: DERR1-10.2196/46363.