title: Orphan drug policies and use in pediatric nephrology.
abstract: Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness. Processes related to drug pricing, reimbursement, and thereby availability, vary between countries, thus having implications on patient care. These processes are discussed, with specific focus on three drugs used in pediatric nephrology: agalsidase beta (for Fabry disease), eculizumab (for atypical hemolytic uremic syndrome), and cysteamine bitartrate (for cystinosis). Access to and costs of orphan drugs have most profound implications for patients, but also for their physicians, hospitals, insurance policies, and society at large, particularly from financial and ethical standpoints.
authors.affiliation: Department of Pediatrics, Clinical Sciences Lund, Lund University, 22185, Lund, Sweden. diana.karpman@med.lu.se.
authors.forename: Diana
authors.identifier: 0000-0001-7220-7658
authors.initials: D
authors.lastname: Karpman
authors.affiliation: Department of Clinical Chemistry and Pharmacology, Laboratory Medicine Lund, Lund University, Lund, Sweden.
authors.forename: Peter
authors.initials: P
authors.lastname: Höglund
mesh_terms: D002648:Child; D003362:Cost-Benefit Analysis; D016527:Drug Costs; D004345:Drug Industry; D006801:Humans; D007674:Kidney Diseases / Q000188:drug therapy* / Q000191:economics; D009398:Nephrology / Q000191:economics / Q000941:ethics*; D009965:Orphan Drug Production / Q000191:economics / Q000941:ethics* / Q000331:legislation & jurisprudence; D057766:Policy; D035583:Rare Diseases / Q000188:drug therapy*
keywords: Atypical hemolytic uremic syndrome; Cystinosis; Fabry disease; Orphan drug; Quality-adjusted life-year; Rare disease