title: Orphan drug development.
abstract: Commercial treatment for a lysosomal storage disorder (LSD; i.e., Gaucher disease) became available in 1991 as a consequence of collaborative efforts between the National Institutes of Health and a biotechnology company, Genzyme Corporation, fostered by the Orphan Drug Act. (ODA, 1983) Other therapies were subsequently introduced for other LSDs (e.g., for Fabry disease) through ODA-driven incentives, as combined projects between academia and industry, facilitated by the Bayh-Dole Act (1980). Today, several enzyme therapies are available and other treatment options are anticipated, including small molecular drugs which inhibit substrate synthesis or act as pharmacologic chaperones. Disease-specific therapies has modified disease course to varying extents, and on-going data collection through registry/observational programs are in place to characterize both long-term safety and efficacy. Aspects of disease that remain challenging include those resulting from bone and brain involvement, which may necessitate novel therapeutic strategies. Issues related to high cost of therapy and access also remain to be addressed.
authors.affiliation: Department of Neurology and Pediatrics, NYU School of Medicine, New York, NY, USA. Gregory.Pastores@yale.edu
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.affiliation: Department of Neurology and Pediatrics, NYU School of Medicine, New York, NY, USA.
authors.forename: Punita
authors.initials: P
authors.lastname: Gupta
mesh_terms: D001709:Biotechnology / Q000379:methods*; D056947:Enzyme Replacement Therapy / Q000379:methods*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000188:drug therapy*; D009965:Orphan Drug Production / Q000379:methods*