Rare Diseases International, whose community engages with the World Health Organization, examines rare diseases and health equity, emphasising shifting the paradigm through global action
Rare diseases are at a flex point. Once thought of as a disparate assortment of small, isolated groups, in recent years the rare disease community has witnessed the progress that comes from working together at the global level to empower Persons Living with a Rare Disease (PLWRD) and their families. PLWRD are few, but also many: while the over 7,000 documented rare diseases each affect a small number of people, together they affect over 300 million people worldwide.
The mobilisation of this community of patients, families, researchers, and clinicians has brought about advances in science, improvements in healthcare and the emergence of national policies, leading to improved outcomes for PLWRD. However, progress has been unequal across the globe. In many low- and middle-income countries, advocates are working to improve outcomes for PLWRD in their communities, but they lack the support and resources they need to drive long-term change. Now is the moment to transform this collective advocacy into global impact to ensure sustainable improvements in outcomes and health equity for the rare disease community.
How can we bring about this global impact? Collective action through a collaborative and multisectoral approach is essential. To truly achieve “health for all”, rare diseases must become a global health priority. That is why Egypt and Spain are sponsoring a resolution entitled “Rare Diseases: A Priority for Global Health Equity and Inclusion” at the World Health Assembly (WHA) in 2025, with co-sponsorship from several other nations, including Qatar, Malaysia, France, Panama, Chile, and the Philippines. If successful, this Resolution will build on important policy achievements, notably the 2021 UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, which was adopted by all UN Member States, to provide a strong framework for improving the lives of PLWRD globally.
Why a WHA Resolution calling for a Global Action Plan?
While many regions and countries have already made commendable progress in addressing the needs of PLWRD, this progress has not been consistent across all communities. PLWRD worldwide continues to face significant challenges arising from the infrequency of their conditions. On average, it takes over four years for a rare condition to be diagnosed, even in wealthy countries. (1) Clinical experts on rare diseases are often few and geographically dispersed, and there are insufficient knowledge-sharing platforms allowing non-specialists to consult with these experts on patient care. PLWRD and their families face a significant financial burden from high out-of-pocket expenses and lost wages related to their conditions.
These global challenges need a global response. The primary proposed aim of the WHA Resolution on Rare Diseases is to call upon the World Health Organization to develop a comprehensive Global Action Plan on Rare Diseases (GAPRD), which would provide Member States with a tangible framework for action and a clear, detailed roadmap. It would establish global targets, strategic goals, and specific actions to achieve them. The guiding principles of this plan would include a common reference point for identifying rare diseases and a commitment to people-centred primary healthcare and universal health coverage.
It would advocate for an integrated approach to care throughout an individual’s life and ensure that the best available evidence informs policies and practices. While a GAPRD would not call for mandatory funding commitments, it would be a tool for aligning existing financial resources, policies and efforts to ensure more efficient and equitable outcomes. Further, it would establish a robust process for accountability and monitoring to track implementation progress.
A unified vision to inspire investment
Today’s rare disease landscape is full of hope. Significant research and development (R&D) investment in rare diseases has led to unprecedented breakthroughs in treatments and therapies. However, this investment and any subsequent implementation are unequal across the globe. Despite advances, there is still a shortage of financial incentives to develop drugs for the small and dispersed population of PLWRD. Additionally, rigorous clinical trials pose methodological and ethical challenges for rare disease drug development. As a result, more than 95% of rare diseases do not currently have an approved treatment. (2)
A GAPRD would establish rare diseases as a global health priority, critical in attracting public and private sector funding. Creating a clear roadmap would consolidate the impact of funding and create a unified vision that inspires investment.
An opportunity for leadership
This WHA Resolution is an unprecedented opportunity for Member States to strengthen their positions as leaders in healthcare innovation and cement their commitment to health equity, inclusion and health priorities such as Universal Health Coverage (UHC) and Sustainable Development Goals (SDG). It will be the catalyst that urges Member States to work together to enhance policy, accelerate research and innovation, and improve access to care for PLWRD worldwide.
Crucially, it will provide a framework to enhance capacities and resources at the national, regional, and local levels. Global policy alone is not enough. Rare disease stakeholders and actors, from national governments through to grassroots community organisations, must be provided with the resources, data, guidance, and support necessary to implement evidence-based policies and programs to drive change for PLWRD in their communities, translating this global commitment into tangible impact. Only then can we ensure that no one is left behind.
References
- Faye, F., Crocione, C., Anido de Peña, R. et al. Time to diagnosis and
determinants of diagnostic delays of people living with a rare disease: results
of a Rare Barometer retrospective patient survey. Eur J Hum Genet 32,
1116–1126 (2024). https://doi.org/10.1038/s41431-024-01604-z - The landscape for rare diseases in 2024 The Lancet Global Health, The Lancet
Global Health, Volume 12, Issue 3, e341
