Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
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DOI：
10.1007/s10545-011-9325-5
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发表时间：
2011-08-01
影响因子：
4.2
通讯作者：
Morava, Eva
中科院分区：
文献类型：
--
作者：
Achouitar, Samira;Mohamed, Miski;Morava, Eva
先天性糖基化障碍（CDG）是一组临床异质性的先天性代谢错误。目前，治疗方法仅适用于一种CDG，但对另一种CDG的潜在治疗方法即将出现。清楚地了解CDG的自然史和患者所承受的相应的残疾负担，对此类药物的临床试验至关重要。迄今为止，还没有多中心的研究试图记录CDG的自然历史。这部分是由于缺乏一种可靠的评估工具来对CDG的各种临床谱进行评分。基于我们早期评估氧化磷酸化障碍疾病进展的经验，我们开发了一个实用的、半定量的CDG儿童评分量表。奈梅亨儿科CDG评定量表（NPCRS）已在12名儿童中得到验证，为客观监测疾病进展提供了一种工具。我们与九名经验丰富的医生合作，利用病人身体和神经检查的视频记录，成功地进行了NPCRS试验。NPCRS的使用可以促进纵向和自然历史研究，这对未来的干预措施至关重要。
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions.