脊髓性肌萎缩症治疗在新生儿筛查识别患者中的应用：系统评价。
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.
机构信息
Department of Neurology, Medical University of Warsaw, 02-097 Warsaw, Poland.
Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège, University of Liège, 4000 Liège, Belgium.
出版信息
Genes (Basel). 2023 Jun 29;14(7):1377. doi: 10.3390/genes14071377.
BACKGROUND
In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries. However, prognosis of those patients cannot be inferred from clinical trials conducted in presymptomatic individuals, as in some cases disease presents very early.
METHODS
we conducted a systematic review of articles published up to January 2023.
RESULTS
Among 35 patients with three copies treated before 42 days of age and followed-up for at least 18 months, all but one achieved autonomous ambulation. Of 41 patients with two copies, who were non-symptomatic at treatment initiation, all achieved a sitting position independently and 31 were able to walk. Of 16 patients with two copies followed-up for at least 18 months who presented with symptoms at treatment onset, 3 achieved the walking milestone and all but one were able to sit without support.
CONCLUSIONS
evaluation of data from 18 publications indicates that the results of early treatment depend on the number of copies and the initial neurological status of the patient.
背景
在脊髓性肌萎缩症中，临床试验结果表明，在症状出现前给予疾病修正治疗非常有效，这促使越来越多的国家开展新生儿筛查计划。然而，由于在某些情况下疾病很早就出现了，因此不能从对无症状个体进行的临床试验中推断出这些患者的预后。
方法
我们对截至 2023 年 1 月发表的文章进行了系统综述。
结果
在 35 名年龄在 42 天之前接受治疗且至少随访 18 个月的三拷贝患者中，除 1 名患者外，所有患者均能自主行走。在 41 名起始治疗时无症状的两拷贝患者中，所有患者均能独立坐起，31 名患者能够行走。在 16 名至少随访 18 个月且在治疗开始时出现症状的两拷贝患者中，有 3 名患者达到了行走里程碑，除 1 名患者外，所有患者均能无需支撑而坐立。
结论
对 18 份出版物的数据评估表明，早期治疗的结果取决于拷贝数和患者的初始神经状态。
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