PURPOSE PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution. METHODS We performed data analysis on PMM2-CDG patients' clinical features according to the Nijmegen CDG severity score and laboratory data. Seventy-five patients (28 males) were followed up from 11.0 ± 6.91 years for an average of 7.4 ± 4.5 years. RESULTS On a group level, there was no significant evolution in overall clinical severity. There was some improvement in mobility and communication, liver and endocrine function, and strabismus and eye movements. Educational achievement and thyroid function worsened in some patients. Overall, the current clinical function, the system-specific involvement, and the current clinical assessment remained unchanged. On follow-up there was improvement of biochemical variables with (near) normalization of activated partial thromboplastin time (aPTT), factor XI, protein C, antithrombin, thyroid stimulating hormone, and liver transaminases. CONCLUSION PMM2-CDG patients show a spontaneous biochemical improvement and stable clinical course based on the Nijmegen CDG severity score. This information is crucial for the definition of endpoints in clinical trials.

中文翻译：

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PMM2-CDG 的长期随访：我们准备好开始治疗试验了吗？

目的 PMM2-CDG 是最常见的先天性糖基化障碍 (CDG)，表现为神经或多系统表型。关于纵向演化知之甚少。方法我们根据Nijmegen CDG严重程度评分和实验室数据对PMM2-CDG患者的临床特征进行数据分析。75 名患者（28 名男性）从 11.0 ± 6.91 年平均随访 7.4 ± 4.5 年。结果 在组水平上，总体临床严重程度没有显着变化。在活动能力和沟通、肝脏和内分泌功能、斜视和眼球运动方面有一些改善。一些患者的教育成就和甲状腺功能恶化。总体而言，当前的临床功能、系统特异性受累、目前的临床评估保持不变。在随访中，随着活化部分促凝血酶原激酶时间 (aPTT)、因子 XI、蛋白 C、抗凝血酶、促甲状腺激素和肝转氨酶（接近）正常化，生化变量有所改善。结论 PMM2-CDG 患者基于 Nijmegen CDG 严重程度评分显示出自发的生化改善和稳定的临床过程。该信息对于临床试验中终点的定义至关重要。结论 PMM2-CDG 患者基于 Nijmegen CDG 严重程度评分显示出自发的生化改善和稳定的临床过程。该信息对于临床试验中终点的定义至关重要。结论 PMM2-CDG 患者基于 Nijmegen CDG 严重程度评分显示出自发的生化改善和稳定的临床过程。该信息对于临床试验中终点的定义至关重要。