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A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act

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Fermaglich, Lewis J., Miller, Kathleen L.·2023·Orphanet Journal of Rare Diseases

DOI 10.1186/s13023-023-02790-7PMC PMC10290406

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Abstract

Background: Rare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare disease drug development revolution for these patients. Financial incentives provided by the ODA through its Orphan Drug Designation Program, in addition to remarkable scientific advances over the past 40 years, have led to hundreds of drug approvals for rare diseases. Our research examines the rare diseases that have been targeted by orphan drug designations and subsequent approvals since the law was enacted. Methods: Using an internal FDA database, we classified and analyzed all orphan drug designations and approvals from 1983 to 2022 by disease and therapeutic area. Results: Over the 40 years of the ODA, 6,340 orphan drug designations were granted, representing drug development for 1,079 rare diseases. Additionally, 882 of those designations resulted in at least one FDA approval for use in 392 rare diseases. Much of this development has been concentrated in oncology as seven of the top ten most designated and approved diseases were rare cancers. Conclusions: Researchers have estimated that there may be 7000–10,000 rare diseases that have been identified and described. Based on our study, we can conclude that around 5% of rare diseases have an FDA-approved drug and up to 15% of rare diseases have at least one drug that has been developed and shown promise in their treatment, diagnosis or prevention. Funding of basic and translational science for rare disease drug development should continue in order to bring therapies to the millions of affected patients who remain without treatment options.

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Fig. 1 Total orphan drug designations (n = 6340) and initial orphan drug approvals (n = 882) by decade, 1983–2022CC BY · PubMed Central

Fig. 2 Few rare diseases account for a large percentage of orphan drug designations and initial orphan drug approvals, 1983–2022CC BY · PubMed Central

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Authors: Fermaglich, L. J., & Miller, K. L.
Affiliations: United States Food and Drug Administration (US)
Corresponding author: Fermaglich, Lewis J.
ORCID: Fermaglich, Lewis J.
Miller, Kathleen L.
Venue: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Published: 2023-06-23
Volume: 18
Issue: 1
Pages: 163-163
ISSN: 1750-1172 (ISSN-L)
DOI: 10.1186/s13023-023-02790-7
PMC: PMC10290406
OpenAlex: W4381839562
Cited by: 134
References: 14
Citations by year: 2026: 41 · 2025: 58 · 2024: 28 · 2023: 7
FWCI: 27.29
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0 (tdm)
creativecommons.org/licenses/by/4.0 (vor)
Locations: Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics: Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Pharmaceutical Economics and Policy
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmaceutical studies and practices
Health Sciences › Nursing › Issues, ethics and legal aspects › Biomedical Ethics and Regulation
Keywords: rare diseases, orphan drugs, Orphan Drug Act, orphan drug designation, drug approval, rare tumor, anticancer drug development, therapeutic areas, FDA drug approval, rare disease drug development
MeSH terms: Humans, Neoplasms, Orphan Drug Production, United States, United States Food and Drug Administration, Drug Approval, Rare Diseases

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A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act

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