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A journey of hope: lessons learned from studies on rare diseases and orphan drugs
Author(s) -
WÄSTFELT M.,
FADEEL B.,
HENTER J.I.
Publication year - 2006
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.2006.01666.x
Subject(s) - orphan drug , medicine , rare disease , intensive care medicine , disease , incentive , pharmaceutical industry , alternative medicine , drug development , quality of life (healthcare) , drug , pharmacology , bioinformatics , pathology , nursing , economics , biology , microeconomics
. Rare diseases are frequently life‐threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant. However, drug development for these conditions has been limited by a lack of understanding of the underlying mechanisms of disease and the relative unavailability of subjects for clinical trials, as well as the prohibitive cost of investing in a novel pharmaceutical agent with poor market potential. Nevertheless, the introduction of Orphan Drug legislations has provided important incentives for the development of orphan drugs (i.e. drugs that have been abandoned or ‘orphaned’ by major drug companies). Moreover, recent studies on rare diseases, including inherited immunodeficiencies and metabolic disorders, have served not only to alleviate the plight of patients with rare diseases, but also yielded valuable information on biological processes of relevance for other, more common conditions. These lessons, along with the crucial importance of cooperation between academic institutions, pharmaceutical companies, patient advocacy groups and society in the elucidation of rare diseases, are highlighted in the present review.