ENZYME REPLACEMENT THERAPY IN TREATMENT OF MPS I

酶替代疗法治疗 MPS I

• 批准号: 6264913
• 负责人: EMIL Dennis KAKKIS
• 金额: $ 0.1万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6264913
• 关键词: clinical research; drug adverse effect; drug screening /evaluation; enzyme therapy; human subject; human therapy evaluation; lysosomes; mucopolysaccharidosis type I

Mucopolysaccharidosis I, or MPSI, is a spectrum of disorders caused by a lysosomal storage disorder. This deficiency of an enzyme in the lysosome or digestive organ of the cell leads to an accumulation of large amounts of the substrates called mucopolysaccharides. This accumulated material causes severe multisystem disease in these patients, including mental retardation, heart disease, respiratory disease, joint stiffness, bone deformity and often leads to death. This study will evaluate the safety and efficacy of enzyme replacement therapy in the treatment of MPS I. Safety and effects of the enzyme on lysosomal storage in the liver, spleen, urine and other sites as well will be evaluated.

粘多糖样沉积症I或MPSI是由溶酶体贮积症引起的一系列疾病。 这种酶在细胞的溶酶体或消化器官中的缺乏导致大量称为粘多糖的底物的积累。 这些积累的物质会导致这些患者严重的多系统疾病，包括智力迟钝、心脏病、呼吸系统疾病、关节僵硬、骨畸形，并经常导致死亡。 本研究将评价酶替代疗法治疗MPS I的安全性和有效性。还将评价酶对肝脏、脾脏、尿液和其他部位溶酶体蓄积的安全性和影响。