Lysosomal Diseases Research Unit, 4th Floor Rogerson Building, SA Pathology, Women's and Children's Hospital campus, 72 King William Road, North Adelaide, SA, 5006, Australia.
J Inherit Metab Dis. 2011 Oct;34(5):1003-12. doi: 10.1007/s10545-011-9341-5. Epub 2011 May 17.
Lysosomal storage disorders are inherited metabolic diseases in which a mutation in a gene encoding a lysosomal enzyme or lysosome-related protein results in the intra-cellular accumulation of substrate and reduced cell/tissue function. Few patients with neurodegenerative lysosomal storage disorders have access to safe and effective treatments although many therapeutic strategies have been or are presently being studied in vivo thanks to the availability of a large number of animal models. This review will describe the comparative advancement of a variety of therapeutic strategies through the 'research pipeline'. Our goal is to provide information for clinicians, researchers and patients/families alike on the leading therapeutic candidates at this point in time, and also to provide information on emerging approaches that may provide a safe and effective treatment in the future. The length of the pipeline represents the significant and sustained effort required to move a novel concept from the laboratory into the clinic.
溶酶体贮积症是一类遗传性代谢疾病，由于编码溶酶体酶或溶酶体相关蛋白的基因突变，导致细胞内底物蓄积和细胞/组织功能降低。尽管有大量的动物模型，许多治疗策略已经或正在体内进行研究，但只有少数神经退行性溶酶体贮积症患者能够获得安全有效的治疗。本文通过“研究管道”描述了各种治疗策略的比较进展。我们的目标是为临床医生、研究人员和患者/家属提供有关当前主要治疗候选药物的信息，并提供有关未来可能提供安全有效治疗方法的新兴方法的信息。管道的长度代表了将新的概念从实验室转移到临床所需的大量持续努力。
