Emergent treatments for β-thalassemia and orphan drug legislations

Drug Discov Today. 2022 Nov;27(11):103342. doi: 10.1016/j.drudis.2022.103342. Epub 2022 Sep 1.


In many countries, β-thalassemia (β-THAL) is not uncommon; however, it qualifies as a rare disease in the US and in European Union (EU), where thalassemia drugs are eligible for Orphan Drug Designation (ODD). In this paper, we evaluate all 28 ODDs for β-THAL granted since 2001 in the US and the EU: of these, ten have since been discontinued, twelve are pending, and six have become licensed drugs available for clinical use. The prime mover for these advances has been the increasing depth of understanding of the pathophysiology of β-THAL; at the same time, and even though only one-fifth of β-THAL ODDs have become licensed drugs, the ODD legislation has clearly contributed substantially to the development of improved treatments for β-THAL.

Keywords: Beta thalassemia; Global health; Orphan drugs.

Publication types

  • Review

MeSH terms

  • European Union
  • Humans
  • Legislation, Drug
  • Orphan Drug Production*
  • Rare Diseases / drug therapy
  • beta-Thalassemia* / drug therapy