Enzyme replacement therapy: conception, chaos and culmination.
Soon after the enzymatic defects in Gaucher disease and in Niemann-Pick disease were discovered, enzyme replacement or enzyme supplementation was proposed as specific treatment for patients with these and related metabolic storage disorders. While relatively straightforward in concept, successful implementation of this approach required many years of intensive effort to bring it to fruition. Procedures were eventually developed to produce sufficient quantities of the requisite enzymes for clinical trials and to target therapeutic enzymes to lipid-storing cells. These achievements led to the development of effective enzyme replacement therapy for patients with Gaucher disease and for Fabry disease. These demonstrations provide strong incentive for the application of this strategy for the treatment of many human disorders of metabolism.
Brady
Roscoe O
RO
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Building 10, Room 3D04, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. bradyr@ninds.nih.gov
D002986:Clinical Trials as Topic; D057487:Enzyme Therapy; D006801:Humans; D013106:Sphingolipidoses / Q000188:drug therapy*; D004798:Enzymes
D004798:Enzymes