公开(公告)号：US20170030926A1

公开(公告)日：2017-02-02

申请号：US15234364

申请日：2016-08-11

Applicant: Yeda Research and Development Co. Ltd.

Inventor： Anthony FUTERMAN ,  Hila Zigdon

IPC: G01N33/68

CPC classification number: G01N33/6893 ,  G01N2333/705 ,  G01N2405/08 ,  G01N2800/044 ,  G01N2800/52 ,  G01N2800/56

Abstract: A biomarker of the neuronopathic types of Gaucher's disease (nGD) is provided, and use thereof for assisting the diagnosis of this form of the disease and its severity. In particular, use of the level of trans-membrane glycoprotein non-metastatic B (GPNMB) or a fragment thereof in the cerebrospinal fluid (CSF) as a diagnostic marker of nGD is provided. Further provided are methods for selecting drugs and assessing the efficacy of drugs and therapies for treating nGD.

Abstract translation: 提供了戈谢氏病（nGD）的神经元病变类型的生物标志物，并提供其用于帮助诊断这种形式的疾病及其严重性的用途。 特别地，提供了将脑脊液（CSF）中的跨膜糖蛋白非转移性B（GPNMB）或其片段的水平用作nGD的诊断标记物。 还提供了选择药物和评估药物和治疗nGD疗法的方法。