Emergent treatments for β-thalassemia and orphan drug legislations

Enrico Costa*, Maria Domenica Cappellini, Stefano Rivella, Adriana Chilin, Eva Alessi, Massimo Riccaboni, Hubert G.M. Leufkens, Lucio Luzzatto

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number103342
Pages (from-to)1-13
Number of pages13
JournalDrug Discovery Today
Issue number11
Publication statusPublished - Nov 2022


  • Beta thalassemia
  • Global health
  • Orphan drugs


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