未治疗和接受诺西那生治疗的患者队列中的脊髓性肌萎缩症功能综合评分修订版（SMA-FCR）
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.
作者信息
Pasternak Amy, McDermott Michael P, Montes Jacqueline, Glanzman Allan M, Coratti Giorgia, Dunaway Young Sally, Duong Trinh Tina, Martens William B, Day John W, Zolkipli-Cunningham Zarazuela, Sansone Valeria Ada, D'Amico Adele, Messina Sonia, Bruno Claudio, Mercuri Eugenio, De Vivo Darryl C, Darras Basil T
机构信息
Department of Physical and Occupational Therapy Services, Boston Children's Hospital, MA.
Department of Biostatistics and Compulational Biology, University of Rochester, NY.
出版信息
Neurology. 2025 Jul 22;105(2):e213839. doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27.
BACKGROUND AND OBJECTIVES
The Spinal Muscular Atrophy Functional Composite (SMA-FC) combines scores from the Hammersmith Functional Motor Scale Expanded (HFMSE), Upper Limb Module (ULM), and Six-Minute Walk Test (6MWT) into a single score and removes the floor and ceiling effects of the HFMSE. Our objective was to evaluate a revised version of the SMA-FC (SMA-FCR) by including the Revised ULM (RULM) in untreated and nusinersen-treated SMA.
METHODS
We included participants with HFMSE, RULM, and 6MWT data at the same visit. The SMA-FCR represented the average of the 3 test scores, each expressed as the percentage of the maximum possible score (HFMSE and RULM) or the percent of predicted normative performance (6MWT). Mean annual rates of change were calculated in participants who had SMA-FCR data at 2 or more visits while untreated and/or while treated.
RESULTS
There were 580 participants (49.6% female) with a mean (SD) age of 19.2 (15.5) years (range 1.3-70.6 years). The median (interquartile range) SMA-FCR scores were 3.6 (0.0-8.1) for nonsitters, 22.3 (16.3-31.2) for sitters, and 75.1 (63.7-86.6) for walkers. The SMA-FCR score reduced the ceiling effect seen with the RULM in walkers and the floor effect seen with the HFMSE in nonsitters. The mean annual rate of change in the SMA-FCR was -0.62 (95% CI -1.15 to -0.08, = 0.02) in untreated participants and 0.15 (95% CI -0.12 to 0.42, = 0.28) in treated participants (difference = 0.77, 95% CI 0.19-1.34, = 0.009). The mean annual rate of change in the HFMSE was -0.19 (95% CI -0.63 to 0.25, = 0.40) in untreated participants and -0.21 (95% CI -0.43 to 0.01, = 0.06) in treated participants (difference = -0.02, 95% CI -0.49 to 0.46, = 0.94).
DISCUSSION
The SMA-FCR broadens the spectrum of abilities captured in SMA. Analyses of the treated-untreated differences in mean annual rate of change suggest that the SMA-FCR may be more sensitive to change than the HFMSE. The use of the SMA-FCR in clinical trials might allow for study designs with broader eligibility criteria including weaker individuals who score minimally on the HFMSE and stronger individuals who score maximally on the RULM.
背景与目的
脊髓性肌萎缩症功能综合评分（SMA - FC）将汉默史密斯功能运动量表扩展版（HFMSE）、上肢模块（ULM）和六分钟步行试验（6MWT）的得分合并为一个单一分数，并消除了HFMSE的地板效应和天花板效应。我们的目的是通过在未治疗和接受诺西那生治疗的脊髓性肌萎缩症患者中纳入修订后的上肢模块（RULM）来评估SMA - FC的修订版（SMA - FCR）。
方法
我们纳入了在同一就诊时具有HFMSE、RULM和6MWT数据的参与者。SMA - FCR代表三个测试分数的平均值，每个分数表示为最大可能分数（HFMSE和RULM）的百分比或预测正常表现的百分比（6MWT）。在未治疗和/或治疗期间有两次或更多次就诊时具有SMA - FCR数据的参与者中计算平均年变化率。
结果
共有580名参与者（49.6%为女性），平均（标准差）年龄为19.2（15.5）岁（范围1.3 - 70.6岁）。非坐立者的SMA - FCR中位数（四分位间距）分数为3.6（0.0 - 8.1），坐立者为22.3（16.3 - 31.2），步行者为75.1（63.7 - 86.6）。SMA - FCR分数减少了步行者中RULM所见的天花板效应和非坐立者中HFMSE所见的地板效应。未治疗参与者的SMA - FCR平均年变化率为 - 0.62（95%置信区间 - 1.15至 - 0.
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