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

doi:10.1016/j.drudis.2022.103342

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.

Authors

Enrico Costa¹, Maria Domenica Cappellini², Stefano Rivella³, Adriana Chilin⁴, Eva Alessi⁵, Massimo Riccaboni⁶, Hubert G M Leufkens⁷, Lucio Luzzatto⁸

Affiliations

¹ WHO Collaborating Centre for Pharmaceutical Policy and Regulation at Utrecht University, Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Science, Utrecht, the Netherlands. Electronic address: [email protected].
² Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address: [email protected].
³ Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA; Cell and Molecular Biology Affinity Group (CAMB), University of Pennsylvania, Philadelphia, PA, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Penn Center for Musculoskeletal Disorders, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: [email protected].
⁴ Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padova, Italy. Electronic address: [email protected].
⁵ Italian Medicines Agency, Rome, Italy. Electronic address: [email protected].
⁶ Axes, IMT School for Advanced Studies, Lucca, Italy. Electronic address: [email protected].
⁷ Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Science, Utrecht, the Netherlands. Electronic address: [email protected].
⁸ Department of Haematology, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania. Electronic address: [email protected].

PMID: 36058507
DOI: 10.1016/j.drudis.2022.103342

Abstract

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