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Abstract

Abstract: 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.

Thesaurus Terms:
beta glucuronidase, drug design /synthesis /production, enzyme deficiency, enzyme therapy, mucopolysaccharidosis
drug screening /evaluation, lysosome, technology /technique development
cell line, laboratory mouse

Institution:	BIOMARIN PHARMACEUTICAL, INC.
	371 BEL MARIN KEYS BLVD, #210
	NOVATO, CA 94949
Fiscal Year:	2002
Department:
Project Start:	15-MAR-2001
Project End:	31-AUG-2003
ICD:	NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
IRG:	ZRG1