A journey of hope: lessons learned from studies on rare diseases and orphan drugs

J Intern Med. 2006 Jul;260(1):1-10. doi: 10.1111/j.1365-2796.2006.01666.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Clinical Trials as Topic
  • Humans
  • Lymphohistiocytosis, Hemophagocytic / drug therapy
  • Orphan Drug Production* / legislation & jurisprudence
  • Patient Advocacy
  • Rare Diseases / drug therapy*
  • Severe Combined Immunodeficiency / drug therapy
  • Tyrosinemias / drug therapy