ArticleOrphanet journal of rare diseases2021
Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed.
- The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.Orphanet journal of rare diseases · 2026Article
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective.Orphanet journal of rare diseases · 2025Article
- Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand.Orphanet journal of rare diseases · 2025Article
- Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.International journal of neonatal screening · 2025Article
- A collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.Scientific reports · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- Review
- Sub-clustering based recommendation system for stroke patient: Identification of a specific drug class for a given patient.Computers in biology and medicine · 2024Article
- Uptake of orphan drugs in the WHO essential medicines lists.Bulletin of the World Health Organization · 2024Article
- Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.Molecular and cellular pediatrics · 2023Review
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Profile of Drug Utilization in Patients with Rare Diseases in Tuscany, Italy: A Population-Based Study.International journal of environmental research and public health · 2023Article
- Long way to go: Progress of orphan drug accessibility in China from 2017 to 2022.Frontiers in pharmacology · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
backgroundTreatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs. Other barriers include lack of reimbursement, administrative infrastructure, and knowledge about diagnosis and drug treatment options. The International Rare Diseases Research Consortium set up the Rare Disease Treatment Access Working Group with the first objective to develop an essential list of medicinal products for rare diseases.
resultsThe Working Group extracted 204 drugs for rare diseases in the FDA, EMA databases and/or China's NMPA databases with approval and/or marketing authorization. The drugs were organized in seven disease categories: metabolic, neurologic, hematologic, anti-inflammatory, endocrine, pulmonary, and immunologic, plus a miscellaneous category.
conclusionsThe proposed list of essential medicinal products for rare diseases is intended to initiate discussion and collaboration among patient advocacy groups, health care providers, industry and government agencies to enhance access to appropriate medicines for all rare disease patients throughout the world.
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