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

Abstract

Background Treatments 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. Results The 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. Conclusions The 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.

Long way to go: Progress of orphan drug accessibility in China from 2017 to 2022

“…Provinces in the eastern area are higher in hospital access to orphan drugs as visualized in Figure 2 . Availability of orphan drugs are affected by access to proper diagnostics and treatment, local medicine expenditure of the government, and socioeconomic status of patients ( Logviss et al, 2014 ; Detiček et al, 2018 ; Gahl et al, 2021 ). The higher availability rates in the eastern area likely reflect better orphan drug access and more condensed distribution of the designated hospitals ( Shi et al, 2018 ).…”

Orphan Drug Development Policies in India and the United States: A Comparison

“…Throughout the twentieth century, scientific advances resulted in the expansion of numerous medical products and therapeutic advances for patients. However, it became increasingly obvious 6 in the late 1970s that many residents were being shut out of these advancements. The tiny size of particular patient populations was one of the main causes of this neglect.…”

Uptake of orphan drugs in the WHO essential medicines lists

“… 15 Despite different conceptual and legal frameworks ( Table 1 ), orphan legislations and the essential medicines list can both be considered as guidelines on how to prioritize resources and allocate incentives towards universal public health needs; such as programmes to address treatment gaps in regions with few resources. 17 , 18 …”