title: Unintended effects of orphan product designation for rare neurological diseases.
abstract: Since the introduction of the Orphan Drug Act in 1983, designed to promote development of treatments for rare diseases, at least 378 orphan drugs have been approved. Incentives include financial support, tax credits, and perhaps most importantly, extended market exclusivity. These incentives have encouraged industry interest and accelerated research on rare diseases, allowing patients with orphan diseases access to treatments. However, extended market exclusivity has been associated with unacceptably high drug costs, both for newly developed drugs and for drugs that were previously widely available. We suggest that a paradoxical effect of orphan product exclusivity can be reduced patient access to existing drugs. In addition, the costs of each new drug are arguably unsustainable for patients and for the American health care system. Of all the specialties, neurology has the third highest number of orphan product designations, and neurological diseases account for at least one-fifth of rare diseases. Citing the use of tetrabenazine for chorea in Huntington disease, adrenocorticotropic hormone for infantile spasms, and enzyme replacement therapy with alglucosidase alpha for Pompe disease, we highlight these paradoxical effects.
authors.affiliation: Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom.
authors.forename: Sinéad M
authors.initials: SM
authors.lastname: Murphy
authors.forename: Araya
authors.initials: A
authors.lastname: Puwanant
authors.forename: Robert C
authors.initials: RC
authors.lastname: Griggs
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D018726:Anti-Dyskinesia Agents / Q000627:therapeutic use; D001688:Biological Products; D002648:Child; D017277:Drug Approval; D019981:Health Care Sector; D006801:Humans; D007223:Infant; D009422:Nervous System Diseases / Q000188:drug therapy*; D009965:Orphan Drug Production / Q000145:classification* / Q000191:economics* / Q000331:legislation & jurisprudence; D004364:Pharmaceutical Preparations / Q000145:classification*; D013036:Spasms, Infantile / Q000188:drug therapy; D013747:Tetrabenazine / Q000627:therapeutic use; D014481:United States; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: D018726:Anti-Dyskinesia Agents; D001688:Biological Products; D004364:Pharmaceutical Preparations; D000324:Adrenocorticotropic Hormone; C509951:GAA protein, human; D000520:alpha-Glucosidases; D013747:Tetrabenazine