ArticleOrphanet journal of rare diseases2023
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.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 111 citations in OpenAlex.
- Trends in oncology marketing applications in the European Union: a five-year systematic review.Frontiers in pharmacology · 2025Pooled it
- Personalized drug discovery from rare diseases to cancer.npj drug discovery · 2026Review
- Innovative Clinical Pharmacology, Modeling, and Simulation Strategies for Accelerating Rare Disease Drug Development.Journal of clinical pharmacology · 2026Review
- Review
- RD-OMICS: An Integrative Multi-Omics Data Inventory in Rare Diseases.bioRxiv : the preprint server for biology · 2026Article
- Mutation-centric kinase drug repurposing for rare cancers.Nature reviews. Cancer · 2026Article
- The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.Orphanet journal of rare diseases · 2026Article
- Genetically supported drug target prioritization for rare diseases.Genome medicine · 2026Article
- Editors' Note: Gene Therapy and Rare Diseases Through the Ages: Stories of Science and Society.The Yale journal of biology and medicine · 2026Article
- Review
- Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada.Orphanet journal of rare diseases · 2026Article
- Rare disease patients protection: theoretical discussion and institutional construction of orphan drug designation in China.Orphanet journal of rare diseases · 2026Article
- Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.Health and technology · 2026Article
- Genomics of drug target prioritization for complex diseases.Nature reviews. Genetics · 2026Review
- Comparative analysis of organizational and leadership success factors associated with fast-growing biomedical research.Scientific reports · 2026Article
- A case-based explainable graph neural network framework for mechanistic drug repositioning.Bioinformatics (Oxford, England) · 2026Article
- Developing therapeutics for rare cardiovascular diseases.American heart journal · 2026Review
- Comic: explainable drug repurposing via contrastive masking for interpretable connections.BMC bioinformatics · 2026Article
- Empowering AI assisted clinical drug development: tactics to address data bias, the digital divide and missing patient populations through AI and digital solutions.Frontiers in digital health · 2026Review
12 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRare 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.
methodsUsing an internal FDA database, we classified and analyzed all orphan drug designations and approvals from 1983 to 2022 by disease and therapeutic area.
resultsOver 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.
conclusionsResearchers 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.