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Rare diseases and orphan drugs

Nature Reviews Drug Discovery volume 11, pages 267–268 (2012)Cite this article

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Most of the orphan drugs on the market have been approved for a single indication, but close to 50 compounds have received regulatory clearance in multiple rare diseases. With seven separate orphan drug approvals, imatinib (Gleevec; Novartis) is one of the most commercially successful drugs for treating rare diseases. Sales of imatinib reached US$4.65 billion in 2011. In 2006–2008, 16 orphan therapeutics made the top 200 list for US drug sales, with annual sales ranging from $200 million to over $2 billion.

It is now widely recognized that rare diseases provide attractive niche opportunities for biopharmaceutical companies. Orphan drugs offer advantages such as faster development timelines, lower research and development expenses, a higher likelihood of clinical and regulatory success, premium pricing, lower marketing costs and a lower risk of generic competition. According to the Tufts Center for the Study of Drug Development, companies reported that 22% of their programmes designated as orphan drugs led to approvals between 2000 and 2009, whereas clinical approval success rate for mainstream drugs was 16%. Overall, in the past few years, medicines for rare conditions accounted for over 35% of the new drugs approved by the US Food and Drug Administration (FDA).

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Figure 1: Orphan drug designations and unique orphan drug approvals (1984–2011).
Figure 2: Developmental drugs for rare diseases.
Figure 3: Orphan drug approvals by therapeutic area (2006–2011).

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Authors and Affiliations

  1. Irena Melnikova, Ph.D., is a director of Strategy and External Innovation at Sanofi, Cambridge, Massachusetts 02142, USA. irena.melnikova@sanofi.com,

    Irena Melnikova

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  1. Irena Melnikova
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The author declares no competing financial interests.

Supplementary information

Supplementary table 1

Selected orphan drugs in development (PDF 154 kb)

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FURTHER INFORMATION

ClinicalTrials.gov website

FDA application

NCTT Therapeutics for Rare and Neglected Diseases

Pharmaceutical Research and Manufacturers of America (PhRMA) — Rare diseases

Orphanet — European portal for rare diseases and orphan drugs

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Melnikova, I. Rare diseases and orphan drugs. Nat Rev Drug Discov 11, 267–268 (2012). https://doi.org/10.1038/nrd3654

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