当前位置: X-MOL 学术Mol. Genet. Metab. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2020-02-19 , DOI: 10.1016/j.ymgme.2020.02.006
Emil Kakkis 1 , Deborah Marsden 1
Affiliation  

Accumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII), but assessment of the efficacy of treatment can be challenging because these are rare, progressive, and highly heterogeneous diseases; because some clinical manifestations may be irreversible if treatment initiation is delayed; and because determining the benefits of a treatment to prevent those manifestations may take prolonged periods of time. In addition to accumulation of GAGs in tissues, elevated urinary GAG (uGAG) levels are evident and are reduced rapidly after initiation of ERT. Studies in MPS animal models and clinical studies in subjects with MPS diseases have revealed correlations between reductions of uGAG levels and clinical effects of ERTs. In this article, we review the growing body of evidence to support the potential for the use of uGAG levels as predictive biomarkers of treatment efficacy.

中文翻译:

尿糖胺聚糖作为评估具有粘多糖贮积酶受试者的治疗功效的潜在生物标志物。

溶酶体水解酶缺乏导致的糖胺聚糖(GAG)积累是粘多糖酶(MPS)的特征。酶替代疗法(ERTs)现在可用于多种MPS疾病(MPS I,MPS II,MPS IVA,MPS VI和MPS VII),但是评估治疗效果可能具有挑战性,因为这些治疗罕见,进展且高度异质性疾病;因为如果延迟治疗开始,某些临床表现可能是不可逆的;并且因为确定治疗的益处以预防那些表现可能会花费较长的时间。除了组织中GAG的积累外,尿液GAG(uGAG)的水平升高也是很明显的,并且在ERT启动后迅速降低。对MPS动物模型的研究以及对MPS疾病受试者的临床研究表明,uGAG水平降低与ERT的临床效果之间存在相关性。在本文中,我们回顾了越来越多的证据来支持使用uGAG水平作为治疗功效的预测性生物标志物的潜力。
更新日期:2020-02-19
down
wechat
bug