Rawlings Andreea M, Chuang Rosalind S, Schmahmann Jeremy D, Perlman Susan L, Rosenthal Liana S, Safarpour Delaram, Casey Hannah, Horak Fay B, Gomez Christopher M
Biogen, Cambridge, Massachusetts, USA.
Ataxia Center, Division of Behavioral Neurology and Integrated Brain Health, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Mov Disord Clin Pract. 2025 May;12(5):638-647. doi: 10.1002/mdc3.14323. Epub 2025 Jan 28.
Clinical outcomes assessments (COAs) in spinocerebellar ataxia (SCA) need to be standardized, ataxia-specific, sensitive to change, clinically relevant, and meaningful to patients.
To evaluate the longitudinal 1- and 2-year performances of different patient reported outcomes, including the Patient Reported Outcome Measure of Ataxia (PROM-Ataxia), and clinician reported outcomes, including FARS and SARA, in those with early manifest symptoms of SCA 1, 2, 3, and 6.
We studied 53 patients with early stage SCA1-3 and SCA6 from The Instrumented Data Exchange for Ataxia Study and 24 age-matched healthy controls. Participants were seen every 6 months for 2 years. Mixed models were used to estimate change over 12- and 24-months of follow-up. Changes on the FARS-FS and PGI-C were used as anchors to estimate meaningful changes.
Among persons with SCA, mean age was 48.7 years and mean SARA score was 9.3. Few measures showed statistically significant changes at 12 months. At 24-months, the FARS-ADL, PROM-Ataxia total, PROM-Ataxia physical, and PROM-Ataxia ADL scores showed the strongest associations of change.
Patient reported or derived outcome measures, such as FARS-ADL and ADL sub domain of the PROM-Ataxia, can capture longitudinal change in patients' symptom experience over a 2-year period and its impact on daily activities, even in those with early disease. More work is needed to identify outcomes that reliably capture change earlier.
脊髓小脑共济失调（SCA）的临床结局评估（COA）需要标准化、具有共济失调特异性、对变化敏感、具有临床相关性且对患者有意义。
评估不同患者报告结局（包括共济失调患者报告结局测量量表（PROM-共济失调））以及临床医生报告结局（包括FARS和SARA）在SCA 1、2、3和6早期症状患者中的1年和2年纵向表现。
我们研究了来自共济失调研究仪器化数据交换中心的53例SCA1-3和SCA6早期患者以及24名年龄匹配的健康对照者。参与者在2年中每6个月接受一次检查。使用混合模型估计随访12个月和24个月期间的变化。以FARS-FS和PGI-C的变化作为锚点来估计有意义的变化。
在SCA患者中，平均年龄为48.7岁，平均SARA评分为9.3。很少有测量指标在12个月时显示出统计学上的显著变化。在24个月时，FARS-ADL、PROM-共济失调总分、PROM-共济失调身体功能和PROM-共济失调ADL评分显示出最强的变化关联。
患者报告或衍生的结局指标，如FARS-ADL和PROM-共济失调的ADL子领域，即使在疾病早期患者中，也能在2年期间捕捉患者症状体验的纵向变化及其对日常活动的影响。需要开展更多工作来确定能更早可靠地捕捉变化的结局指标。
