Advancing equity through innovation in rare diseases

Published on June 26th, 2025

We are few, but we are many: worldwide, over 300 million persons are living with a rare disease and they continue to face challenges accessing diagnosis, treatment, and care. As the global alliance of patient-led rare disease advocacy organizations, Rare Diseases International (RDI) welcomes innovative solutions that seek to address the critical gaps in access to treatment for persons living with a rare disease. While RDI cannot evaluate the efficacy of individual technologies, we strongly support efforts to improve equity in access to care. Innovative projects such as NANOSPRESSO, as presented by Estapé Senti et al. in their Frontiers in Science lead article (1), have the potential to provide tangible improvements in the care and treatment of rare conditions.

We are living in a time of unprecedented technological development in the area of rare disease treatment. While scientific innovation holds great promise for the treatment of rare conditions, these advances are unfolding within a global health landscape marked by deep and persistent inequities. People in low- and middle-income countries (LMICs) face limited access to currently available diagnostic tools and specialized care (2). Treatments for rare conditions are often prohibitively expensive and not covered by public health systems or insurance (3). Many complex treatments, such as gene therapy, require specialized infrastructure which is not available in LMICs, presenting a significant barrier to equitable access (4). As new therapies and treatment delivery models are developed, it is critical to ensure that people living in LMICs are not left behind. The model of decentralized, bedside production of personalized therapies that Estapé Senti et al. propose holds enormous potential for removing barriers to access. If proven safe, effective, and sustainable, this tailored approach could offer a new pathway to overcoming longstanding challenges related to the cost, manufacturing and distribution of rare disease medicines, particularly in regions where health infrastructure and resources are limited.

Further, the capacity to customize treatments to individual patients locally and responsively has the potential to contribute meaningfully to the broader movement towards precision medicine for rare diseases. Recognizing the importance of placing patients at the center of their care, RDI advocates for solutions that reflect the individual needs and preferences of persons living with rare conditions. It is crucial for these solutions to be developed with the participation of persons living with rare diseases to ensure that they are aligned with the real needs and wishes of patients and their families. By developing this solution in an inclusive way, NANOSPRESSO can ensure that it serves the principles of equity, sustainability, and health system integration.

While patients must be at the center of research and development, collaboration with other stakeholders is also a critical success factor for rare disease innovation. Due to the limited number of experts in individual rare conditions, it is vital to encourage cross-border and cross-sector knowledge exchange. RDI advocates for multisector partnerships that include researchers, regulators, health providers, and patient communities, and applauds collaborative, decentralized approaches to developing therapies and treatment options, such as that described by the NANOSPRESSO project’s development team. RDI also notes with interest the project’s dialogue with regulatory bodies. Developing appropriate regulatory and health system frameworks will be essential to ensure that innovative solutions can be implemented safely, equitably, and at scale.

The WHA Resolution on Rare Diseases: an opportunity for innovation

On 24 May 2025, the World Health Assembly (WHA) adopted an historic Resolution on Rare Diseases (5). The Resolution mandates the World Health Organization to develop a comprehensive 10-year Global Action Plan on Rare Diseases (GAPRD) with measurable targets to guide progress. The resolution was initiated by the Arab Republic of Egypt and Spain, and co-sponsored by 41 United Nations Members States, including many LMICs (e.g., Ghana, Honduras, and India). Over 270 civil society organizations also signed onto a Coalition in support of the Resolution. This landmark achievement presents a unique opportunity to promote innovation in the care and treatment of rare conditions. Namely, it encourages countries and partners to explore sustainable and context-appropriate solutions to expand research, development, and access to treatment for persons living with a rare disease. For example, it calls for the establishment of national, regional and international centres of excellence as specialized hubs for care, research and training for rare diseases (article 1l). It encourages collaboration between governments, academic institutions, clinicians, patient organizations and other stakeholders to foster innovation in research, treatment and diagnosis (article 2) and efforts to adopt innovative ways of funding and mobilize resources from all sources (for example, public and private funders) for integrated action on rare diseases (article 3).

In this context, technologies and models such as NANOSPRESSO that harness the power of collaboration between public funders, relevant government agencies, academia and private sector innovators with the aim of make cutting-edge therapies more affordable and adaptable to public health systems—particularly in LMICs—are especially relevant, as they have the potential to contribute to the realization of the GAPRD’s goals for universal health coverage and inclusion. 

The adoption of the WHA Resolution calling for a GAPRD reaffirms both the political will and the grassroots momentum behind supporting improved care for rare diseases. It also recognizes that that people living with rare conditions in every country have significant unmet needs. We stand a pivotal moment for transforming rare disease care and improving health equity and inclusion for people living with rare and undiagnosed conditions, and it is more important than ever to ensure that no one is left behind in innovation, treatment, and care. It is not enough to develop lifesaving and life-changing treatments. For these groundbreaking treatments to make a real impact, they must meet the needs of patients and be accessible to all. Innovative approaches to delivering personalized nanomedicine, such as NANOSPRESSO, have the potential to improve the lives of persons living with a rare disease by making advanced, targeted treatments more effective, inclusive and patient-centered—promoting equity and access for all.

Generative AI statement 

Generative AI was not used in the development of this article. 

Copyright statement 

Copyright: © 2024 [author(s)]. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in Frontiers Policy Labs is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.     

References

1. Estapé Senti ME, Ceccaldi A, Luciani M, Saber N, Schurmann PJL, Geerlings MW, et al. NANOSPRESSO: toward personalized locally produced nucleic acid nanomedicines. Front Sci (2025) 3:1458636. doi: 10.3389/fsci.2025.1458636

2. Wakap SN, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet (2020) 28(2):165–73. doi: 10.1038/s41431-019-0508-0

3. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions—a systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health (2015) 18(6):906–14. doi: 10.1016/j.jval.2015.05.008

4. Kaufmann P, Pariser AR, Austin C. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet J Rare Dis (2018) 13:196. doi: 10.1186/s13023-018-0936-x

5. World Health Organization. Rare diseases: a global health priority for equity and inclusion. WHO (2025). Available at: https://apps.who.int/gb/ebwha/pdf_files/EB156/B156_(15)-en.pdf