Background and objective

Primary lateral sclerosis (PLS) is a neurodegenerative disease characterized by progressive upper motor neuron dysfunction. Because PLS patients represent only 1 to 4% of patients with adult motor neuron diseases, there is limited information about the disease’s natural history. The objective of this study was to establish a large multicenter retrospective longitudinal registry of PLS patients seen at Northeast ALS Consortium (NEALS) sites to better characterize the natural progression of PLS. Methods: Clinical characteristics, electrophysiological findings, laboratory values, disease-related symptoms, and medications for symptom management were collected from PLS patients seen between 2000 and 2015. Results: The NEALS registry included data from 250 PLS patients. Median follow-up time was 3 years. The mean rate of functional decline measured by ALSFRS-R total score was −1.6 points/year (SE:0.24, n = 124); the mean annual decline in vital capacity was −3%/year (SE:0.55, n = 126). During the observational period, 18 patients died, 17 patients had a feeding tube placed and 7 required permanent assistive ventilation. Conclusions: The NEALS PLS Registry represents the largest available aggregation of longitudinal clinical data from PLS patients and provides a description of expected natural disease progression. Data from the registry will be available to the PLS community and can be leveraged to plan future clinical trials in this rare disease.

中文翻译：

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NEALS 原发性侧索硬化登记处。

背景与目的

原发性侧索硬化症 (PLS) 是一种以进行性上运动神经元功能障碍为特征的神经退行性疾病。由于 PLS 患者仅占成人运动神经元疾病患者的 1% 至 4%，因此关于该疾病自然病程的信息有限。本研究的目的是建立一个大型多中心回顾性纵向注册 PLS 患者在东北 ALS 联盟 (NEALS) 站点看到的，以更好地表征 PLS 的自然进展。方法：从 2000 年至 2015 年间就诊的 PLS 患者中收集临床特征、电生理结果、实验室值、疾病相关症状和症状管理药物。结果：NEALS 注册包括来自 250 名 PLS 患者的数据。中位随访时间为 3 年。ALSFRS-R 总分测量的平均功能衰退率为 -1.6 分/年（SE：0.24，n  = 124）；肺活量的平均年下降率为 -3%/年（SE：0.55，n  = 126）。在观察期内，18 名患者死亡，17 名患者放置了饲管，7 名患者需要永久辅助通气。结论： NEALS PLS Registry 代表了 PLS 患者纵向临床数据的最大可用汇总，并提供了对预期自然疾病进展的描述。来自注册中心的数据将提供给 PLS 社区，并可用于规划这种罕见疾病的未来临床试验。