Lysosomal Diseases Research Unit, Nutrition and Metabolism Theme, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, South Australia, 5001, Australia.
J Mol Med (Berl). 2017 Oct;95(10):1043-1052. doi: 10.1007/s00109-017-1562-0. Epub 2017 Jun 29.
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).
黏多糖贮积症（MPS）是溶酶体贮积症的一个亚组，由参与糖胺聚糖分解的基因突变引起。多个器官和组织受到影响，包括中枢神经系统。目前，造血干细胞移植和酶替代疗法已获准用于某些（非神经）MPS。正在临床试验中评估可有效改善疾病神经学方面的治疗方法。本综述将重点介绍 MPS-I（Hurler/Scheie 综合征）、MPS-II（亨特综合征）和 MPS-IIIA 和 -IIIB（Sanfilippo 综合征）的最新结果和计划中的病毒载体介导的基因治疗临床试验，以及支持这些研究的临床前数据。
