Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

William A Gahl,Rachel Yang,Durhane Wong-Rieger,Virginie Hivert,Galliano Zanello,Stephen Groft

doi:10.1186/s13023-021-01923-0

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.

Highlights

A significant unmet need for individuals living with rare diseases is access to beneficial therapies, even those that are approved by major regulatory bodies and are considered as standards of care by experts throughout the world
The International Rare Diseases Research Consortium (IRDiRC) Rare Disease Treatment Access Working Group (RDTAWG) developed a list of essential medicinal products for rare conditions; the list was not intended to include all medicines used to treat rare diseases but those that could be considered as essential based on approvals by key regulatory agencies in the USA, the European Union (EU) and China for the treatment of rare conditions
The list is organized into seven disease categories: metabolic, neurologic, hematologic, anti-inflammatory, endocrine, pulmonary, and immunologic, plus a miscellaneous category

Summary

Introduction

A significant unmet need for individuals living with rare diseases is access to beneficial therapies, even those that are approved by major regulatory bodies and are considered as standards of care by experts throughout the world. This issue is especially apparent in low-and-middle-income countries (LMICs) [1] and affects a substantial proportion of eligible patients in high-income jurisdictions. Treatments are often unavailable for rare disease patients, especially in low-and-middle-income coun‐ tries Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs. 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

Methods

Results

Conclusion