A CROSS-SECTIONAL SURVEY STUDY IN PATIENTS WITH NIEMANN-PICK B DISEASE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 尼曼-皮克病是一种罕见的溶酶体储存障碍，于1914年首次被描述。自从最初的描述以来，已经描述了五种临床形式，并报告了300多例。每个Niemann-Pick亚型主要在巨噬细胞/单核细胞系统的细胞内积累鞘磷脂、胆固醇和各种神经节苷脂和神经节苷脂。目前没有对这种疾病的“标准护理”治疗，症状通过支持性措施进行管理。 这项调查的目的是收集尼曼-皮克B病患者的标准数据和基因信息，这些信息可用于： 1)确定是否存在预测临床严重程度的基因-表型相关性，这可能有助于为未来的治疗试验选择受试者；以及2)改进未来临床试验的设计，以评估重组人ASM在Niemann-Pick B病患者中的安全性和有效性。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Niemann-Pick disease is a rare lysosomal storage disorder that was first described in 1914. Since this original description, five clinical forms have been delineated and more than 300 cases have been reported. Each Niemann-Pick subtype accumulates sphingomyelin, cholesterol, and various glycosphingolipids and gangliosides predominantly within cells of the macrophage/monocyte system. There is currently no "standard of care" treatment for the disease, and symptoms are managed with supportive measures. The objective of this survey is to collect normative data and genotype information from patients with Niemann-Pick B disease that can be used to : 1) determine if there are genotype-phenotype correlations that predict clinical severity, and that may be useful in the selection of subjects for future therapeutic trials; and 2) improve the design of future clinical trials to evaluate the safety and efficacy of rhASM in patients with Niemann-Pick B disease.