In the global health arena, few issues highlight the intersection of equity, inclusion, and perseverance as vividly as the challenges faced by those living with rare diseases. With over 300 million individuals affected worldwide, the upcoming World Health Assembly (WHA) resolution on rare diseases represents a pivotal moment to integrate their needs into the broader framework of global health priorities.
On January 16, 2025, an insightful webinar brought together members of the Rare Diseases International (RDI) coalition and stakeholders to discuss the progress of this landmark resolution.
The WHA Resolution: Elevating Rare Diseases to a Global Health Priority
Spearheaded by Egypt and Spain, and supported by co-sponsors from across the globe—including Qatar, Malaysia, France, and Panama—the WHA resolution acknowledges the pressing need for a coordinated health framework for rare diseases. This resolution is not just symbolic; it calls for concrete action through a Global Action Plan on Rare Diseases, a roadmap designed to align efforts under the umbrella of universal health coverage (UHC).
Building on the 2021 UN resolution on rare diseases, the WHA initiative narrows its focus on health. The objective is clear: ensure that persons living with rare diseases are integrated into UHC efforts, while member states commit to improving diagnosis, care access, and stigma reduction. This marks a significant step forward, shifting from high-level principles to actionable, measurable outcomes.
A Collective Effort
The journey to secure this resolution underscores the importance of collaboration. Coalition partners, including patient advocacy groups, research bodies, and non-profits, have been instrumental in lobbying for support. Notably, Spain’s exemplary leadership, bolstered by its funding commitments to the World Health Organization (WHO), has inspired other nations to contribute to this cause.
However, challenges remain. Pushback from some countries highlights concerns about financing and feasibility, reflecting the complexities of the current global economic climate. Yet, as speakers during the webinar reiterated, the rare disease community possesses not only the solutions but also the resolve to demonstrate that investing in this initiative is both viable and essential.
Towards a Global Action Plan
The Global Action Plan envisioned by this resolution would be the cornerstone for advancing rare disease advocacy. It promises:
This action plan will empower countries to tailor strategies to their unique economic and social contexts, ensuring no one is left behind. The WHO's structured timeline for consultation, development, and eventual adoption reinforces the commitment to deliver meaningful change.
Mobilising for Rare Disease Day and Beyond
The coalition's upcoming efforts, including the publication of a united statement and events around Rare Disease Day including a WHA Resolution webinar on February 27, will galvanise further support. These initiatives aim to raise awareness, strengthen advocacy, and bring more nations on board as co-sponsors.
As we look ahead to the WHA in May 2025, the rare disease community is at a historic crossroads. Achieving this resolution’s adoption would not only recognise the resilience of millions but also pave the way for a more equitable global health system.
Let us continue to champion this cause with determination, ensuring that rare diseases no longer remain a neglected chapter in global health narratives. Together, we can turn the vision of a global action plan into a reality.
Learn more about the WHA Resolution here.
The upcoming EU Health Technology Assessment (HTA) Regulation, set to take effect on January 12, 2025, marks a significant shift in how medicines and health technologies are evaluated across Europe. For patients, this means faster access to life-saving treatments through streamlined and coordinated assessments, enhanced transparency with clear summaries of decisions, and a central role in the evaluation process, ensuring their perspectives are considered. The regulation aims to harmonize methods across Member States, fostering fairness and reducing duplication of efforts. While it promises improved efficiency and inclusivity, challenges such as adapting national systems, meeting tight deadlines, and managing complex procedures highlight the importance of understanding this regulation to ensure its successful implementation and maximize its benefits for patient care.
What is Health Technolgy Assessment (HTA)?
Health Technology Assessment (HTA) is a process used to evaluate the clinical effectiveness, cost-effectiveness, and broader impact of health technologies. These technologies can include medications, medical devices, diagnostic tools, and various treatments used in healthcare as well as social, economic and ethical implication of new technologies. The goal of HTA is to provide evidence-based information to help policymakers, healthcare providers, and patients make informed decisions about the use of these technologies. This ensures that the healthcare systems adopt the most effective and valuable treatments, ultimately benefiting patients.
In other words, HTA is a way to assess new health treatments and technologies to ensure they are safe, effective, and provide good value for money.
Key points to remember about HTA:
Changes in HTA Coming in 2025
With the new EU HTA Regulation coming into effect on January 12 2025, there will be significant changes aimed at harmonising HTA processes across Member States, fostering greater collaboration, efficiency, and inclusivity. It will revolutionise how new medicines and health technologies are evaluated across the EU. These are the key changes that will impact the FH Europe Foundation Community. Here’s what it means in simple terms:
For patients, these changes mean:
Despite the promising potential of the new HTA Regulation, several challenges must be addressed to ensure its effectiveness. Member States will need to adapt their national HTA systems to effectively incorporate findings from Joint Clinical Assessments (JCAs), which may require significant updates and adjustments. Additionally, the tight deadlines for assessments could pose difficulties for developers in providing high-quality data within the required timeframes. The complexity of JCAs, involving extensive documentation and coordination, further demands considerable expertise and resources, making smooth implementation a challenging yet essential endeavour.
Call for Ambassadors as patient experts:
We encourage our Ambassadors to consider the opportunity to be part of the EU HTA process representing the needs and expectations of people living with familial hyperlipidaemias (HeFH, HoFH, elevated Lp(a) and FCS). This is a unique chance to contribute to shaping the future of healthcare in Europe.
Improve your understanding of HTA now:
Call for participation in EU HTA
As part of our ongoing capacity-building efforts for FH Europe Foundation Ambassadors, we are excited to share an important opportunity for patient involvement in Health Technology Assessment (HTA) within the European Union. The EUCAPA training programme is currently seeking Patient Experts to participate in this crucial initiative, with a deadline for applications on January 15, 2025.
The Health Technology Assessment Regulation 2021/2282 (HTAR)
Preparing for the implementation of the HTAR regulation, it has become a key focus, as the new framework is expected to bring significant legal, procedural, and practical changes. Stakeholders, including patients, must be ready to ensure their perspectives are effectively represented at the European level.
As stated in the HTAR, patients are recognised as key contributors to provide robust evidence and information to assessors and co-assessors. Through the EUCAPA initiative, we are seeking patient experts to contribute to:
Role of Ambassadors
As an Ambassador, your voice as the patient expert will be a key contributor in informing the EU HTA process and helping to understand the real-world impact of health technologies.
Key Responsibilities:
Your voice is essential in ensuring that health technologies, such as medicines and high-risk medical devices, are assessed from the perspective of those who use them most—patients.
If you have any questions or if anyone else has already completed the training, please let us know by contacting Elsie Evans on elsie@fheurope.org. Together, we can make a significant impact on the healthcare landscape in Europe.
References & further learning:
Explore the highlights from FH Europe's December 2024 Heart Beat newsletter to catch up on the latest news and events in the world of cardiovascular health:
From December 4–6, FH Europe Foundation participated in the 20th International Symposium on Atherosclerosis (ISA 2024) in Oman. Hosted by the Oman Society of Lipid & Atherosclerosis (OSLA) and the International Atherosclerosis Society (IAS), this global gathering united experts, healthcare professionals, patient advocates, and researchers to explore innovative approaches under the theme “Towards Prevention of Cardiometabolic Diseases through Precision Medicine.”
FH Europe proudly showcased its community’s work with nine accepted abstracts, including five posters and four oral presentations. These contributions ranged from groundbreaking research to lived experiences of patients, underscoring the importance of early diagnosis, improved care, and global collaboration.
Tobias Silberzahn opened FH Europe Foundation’s participation with his compelling presentation “Lp(a) International Taskforce: An Innovative Multistakeholder Approach to Cardiovascular Health.” Delivered during the Health Economics and Policy Considerations session, his presentation outlined the goals of the Lp(a) Taskforce and highlighted the cost-effectiveness of measuring Lp(a) to prevent cardiovascular diseases. Tobias’s contribution drew the attention of leading experts, sparking lively discussions and reflecting the significant interest in tackling elevated Lp(a) as a critical health risk.
Chyrel Lichaa, founder of FH Lebanon and living with Homozygous Familial Hypercholesterolaemia (HoFH), captivated audiences with her personal and professional contributions. Chyrel presented her poster, “Launch of the First HoFH Awareness Day: Addressing Unmet Needs,” and delivered two impactful oral presentations: “Role of Patient Advocates in Securing Apheresis Access in Lebanon” and “Urgent Need for the First FH Patient Organisation in the Middle East.” Her powerful storytelling highlighted the ongoing challenges of access to treatment in Lebanon, while also showcasing the critical role of patient advocacy in driving systemic change.
Elsie Evans shared two important poster presentations: “Reduced QoL and Economic Burden Associated with HoFH: Patient Survey” and “Empowering Advocacy through Education: The FH Europe Foundation Ambassador Programme.” Elsie’s work drew attention to the profound quality-of-life challenges faced by HoFH patients and their families, emphasizing the need for healthcare policies that address economic and emotional burdens. Additionally, Elsie co-chaired a session, providing patient perspectives alongside medical experts and amplifying the role of education in empowering advocacy initiatives.
Jill Prawer delivered a deeply personal and informative oral presentation titled “Global Journey of a Person Living with FCS/Severe HTG.” Living with Familial Chylomicronaemia Syndrome (FCS), Jill shared her experiences managing this rare and severe lipid disorder. Her presentation brought attention to the burden of disease, as well as findings from a 2022 patient survey, illustrating the importance of education and awareness to support individuals living with FCS.
Marc Rijken offered a moving account of his 10-year journey to diagnosis with elevated Lp(a) through his oral presentation, “From a Healthy Citizen to an Lp(a) Patient Advocate.” Despite leading a healthy and active lifestyle, Marc faced two heart attacks, seven stents, and a bypass surgery before discovering elevated Lp(a) as the underlying cause. Fueled by his experience and the impact on his family, Marc became a passionate advocate for improved screening, diagnosis, and awareness.
Kristýna Čillíková, representing ČAKO (Czech patient organisation), presented her poster, “Patient Organisations: Key Factor in Improving Quality of Care.” Kristýna highlighted the essential role patient groups play in driving change, sharing CAKO’s success in advocating for a national cardiovascular health plan in Czechia. She also showcased the Prague Declaration as a milestone in advancing FH pediatric screening, demonstrating how collaboration between policymakers, experts, and patient groups can lead to systemic improvements.
Magdalena Daccord, FH Europe’s CEO, delivered an insightful intervention on the foundation’s achievements in public health policy and advocacy. Her presentation highlighted key initiatives, including the FH Pediatric Screening Strategic Initiative with the Prague Declaration, the PERFECTO-FH research project, and the Lp(a) International Taskforce. Magdalena also spotlighted impactful campaigns like HoFH Awareness Day and the FCS 10g Fat Challenge, which address the unique needs of individuals living with rare lipid disorders.
19 Expert Interviews: Insights for the Community
The FH Europe booth, led by Elsie Evans, became a hub for expert engagement, conducting 19 exclusive interviews with global leaders in cardiovascular health, who offered insights into treatment adherence, nutritional interventions, and emerging therapies. Positioned next to the Lp(a) testing area, the booth welcomed many visitors who sought to better understand genetic lipid disorders and their cardiovascular risks.
Stay tuned as these interviews will be shared on our YouTube channel, offering the wider community access to expert insights and the latest scientific updates.
Moving Forward: Collaboration and Advocacy
ISA 2024 showcased the immense power of uniting patient voices with scientific expertise. From poster presentations to oral sessions and meaningful booth discussions, FH Europe ambassadors demonstrated the critical role of advocacy in advancing awareness, access to care, and research.
Through their stories and findings, our ambassadors made it clear: collaboration and action are essential to prevent the preventable. FH Europe remains committed to driving meaningful change for people living with familial hyperlipidemias.
Stay connected as we continue to work together for a healthier future.
We extend our heartfelt gratitude to everyone who made our participation possible. A special thank you to the IAS for providing us with the booth and awarding three travel grants, to Maxstention for generously producing the booth banners free of charge when our shipments were delayed, and to Arrowhead and Ultragenyx for their invaluable travel grants.