PRODUCTION OF BETA-GLUCURONIDASE FOR MPS VII

MPS VII 的 β-葡萄糖醛酸酶的生产

• 批准号: 6311112
• 负责人: EMIL Dennis KAKKIS
• 金额: $ 18.66万
• 依托单位: BIOMARIN PHARMACEUTICAL, INC.
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-03-15 至 2001-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6311112
• 关键词: beta glucuronidase; cell line; drug design /synthesis /production; drug screening /evaluation; enzyme deficiency; enzyme therapy; laboratory mouse; lysosomes; mucopolysaccharidosis; technology /technique development

DESCRIPTION (applicant's abstract): The deficiency of the enzyme beta-glucuronidaseleads to a progressive debilitatingand fatal disorder of mucopolysaccharidemetabolism known as MPS VII orSly disease.This disorderwas the first MPS to beidentified enzymatically and has been studiedextensively in humansand animalmodels. Thoughextensive data on thetreatment of thedisease exists in the mousemodel, no translation of the benchresearch to human patients has ever occurred due inpart to the apparent rarity of MPS VII. The keylong-term objective of this research is thedevelopment of an enzyme replacementtherapy for MPSVII patients. Thework will be accomplished by developing a highly productive cell line in phase I followed by thedevelopment of a complete commercial process in phase II. The strategy will exploit existing facilities and procedures developed for MPS I enzyme replacement program to rapidly move to theproduction of enzyme in GMP compliance. The work would thus set thestage for filing of an IND and a clinical trial of enzyme replacement therapy in MPS VII patients. PROPOSED COMMERCIAL APPLICATION: The enzyme and process created from this work can be used to produce enzyme and treat patients suffering from Mucopolysaccharidosis VII, a serious, life-threatening genetic disorder.

描述（申请人摘要）：酶缺乏