Why rare diseases are an important medical and social issue

Schieppati, Arrigo; Henter, Jan‐Inge; Daina, Erica; Aperia, Anita

doi:10.1016/s0140-6736(08)60872-7

Cited by 494 publications

(400 citation statements)

References 3 publications

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“…Withholding a drug due to its cost is contradictory to an acceptable patient-doctor relationship, but access to an expensive drug may be limited by regulations or policies, whether societal or imposed by private insurance companies. Societal costs for individuals with a rare disease will be low due to the exclusivity of the specific condition, but the costs will add up when treatment of many rare diseases are accounted for, as an estimate of over 55 million patients are affected by rare diseases in the USA and Europe [4] (http://ec.europa. eu/health/rare_diseases/expert_group/index_en.htm).…”

Section: The Patient's Perspectivementioning

confidence: 99%

Orphan drug policies and use in pediatric nephrology

Karpman

Höglund

2016

Pediatr Nephrol

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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.

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Section: The Patient's Perspectivementioning

confidence: 99%

Orphan drug policies and use in pediatric nephrology

Karpman

Höglund

2016

Pediatr Nephrol

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“…It is well-known that rare diseases are an important medical and social issue (5). With the features of missed or delayed diagnosis, shortage of effective drugs, and the high cost of currently available drugs (6,7), the non-governmental spontaneous activities are clearly not enough to improve the plight for patients with rare diseases.…”

Section: Discussionmentioning

confidence: 99%