Lisbon, Portugal – January 24, 2025. The groundbreaking research project, “New Strategies for The Early Diagnosis, Risk Stratification, and Co-Management of Familial Hypercholesterolemia (FH-EARLY)”, officially launched on January 1, 2025, ushering in a new era of precision medicine and patient-centred care for familial hypercholesterolemia (FH). Running until December 31, 2028, FH-EARLY is supported under the HORIZON Research and Innovation Actions framework with a highly competitive grant of €7.25 million.
The project was inaugurated during an enthusiastic kick-off meeting in Lisbon on January 23, 2025, where representatives from 15 leading institutions across Europe, Lebanon, and Turkey united to align their vision of addressing the urgent needs of FH patients through groundbreaking innovation. This collaboration heralds a new era in tackling the underdiagnosis and undermanagement of familial hypercholesterolemia (FH), the most common inherited condition affecting LDL cholesterol metabolism.
FH-EARLY is led by Associação para Investigação e Desenvolvimento da Faculdade de Medicina (AIDFM) in Portugal and powered by a consortium of 15 distinguished partners, bringing together world-class expertise in genomics, bioinformatics, explainable AI, clinical care, and patient advocacy, ensuring FH-EARLY delivers practical and impactful solutions.
FH-EARLY aims to address some of the persistent challenges of FH, listed by the World Health Organisation (WHO) over a quarter of a century ago. FH, named in the WHO report from 1997 a global public health issue, affects over 30 million individuals worldwide, including 2.5 million Europeans, yet less than 10% of cases are diagnosed, leaving millions at high risk of preventable cardiovascular disease (CVD). Many individuals remain unaware of their condition until they experience a serious cardiovascular event, like a heart attack, or premature heart health issues or even death(s) in the family, highlighting the critical need for earlier and more precise detection.
Current FH care is further hindered by gaps in treatment adherence as well as access, psychosocial barriers, and a lack of culturally tailored communication strategies with the citizen/patient and the health community around FH, cholesterol, genetics and related topics. FH-EARLY seeks to close these gaps by developing solutions that focus not only on cutting-edge technology but also on the human experience, ensuring that patient voices shape every stage of development. To achieve that the project will leverage findings and solutions from sister projects like PERFECTO FH and PerMed FH.
FH-EARLY places patients and families with FH at the heart of innovation. The project’s strength lies in its patient-centric and co-creation approach, involving individuals with FH, including younger people aged 16-24, and their caregivers in designing, testing, and validating solutions. This ensures the tools are practical, culturally relevant, and tailored to the diverse needs of families living with FH, making the project unique and first of its kind.
The groundbreaking innovations at the core of FH-EARLY integrate state-of-the-art technology, precision medicine, and social science research to deliver transformative solutions. The Next-Generation Chip Array will be a highly accessible diagnostic platform offering faster, more affordable genetic testing that identifies genetic causes of FH. A Signature Biomarker intends to offer breakthrough innovation for unparalleled risk stratification and individualised care plans. And finally, the cutting-edge tool - Explainable AI-Driven Integrative Precision Health Profiling (iPHP) Tool, which combines predictive modelling and multi-modal data to guide patients and care providers in managing FH. Its focus on transparency and trust makes AI insights actionable and comprehensible, empowering shared decision-making.
These innovations aim to save lives, prevent heart attacks, and safeguard the cardiovascular health of future generations. The use of explainable AI ensures that both patients and clinicians can trust and understand the recommendations, building confidence in technology while supporting informed care choices.
FH-EARLY is unique in its integration of basic and clinical research with social and behavioural sciences, which are often overlooked in healthcare. The project addresses persistent barriers in health literacy, emotional resilience, and communication to ensure solutions meet the needs of patients in real-world contexts. With a focus on culturally sensitive localisation, FH-EARLY’s efforts aim to build trust and break down barriers in underserved populations, enabling equitable access to life-saving care.
The impact of FH-EARLY extends far beyond medical care. Cardiovascular disease costs the EU an estimated €282 billion annually, encompassing healthcare costs and productivity losses. By enabling earlier diagnosis and more precise interventions, FH-EARLY has the potential to significantly reduce this economic burden, while empowering individuals to lead healthier, heart-attack-free lives. The project comes at an important time in Europe, where the urgency to address the burden of CVD is recognised with a commitment to establish a Cardiovascular Health Plan. By uniting cutting-edge research and technology, patient-centred approaches, and collaborative innovation, the project provides hope for millions living with FH to never become CVD patients.
"With FH-EARLY we continue our mission to prevent the preventable. As CEO of FH Europe Foundation, I am immensely proud and deeply hopeful about the FH-EARLY project. This groundbreaking initiative brings together all the essential elements of precision medicine to address the persistent challenges faced by the FH community. It is a powerful step forward in ensuring earlier diagnosis, equitable care, and a brighter, heart-attack-free future for millions of individuals and families affected by FH." - Magdalena Daccord
FH-EARLY is funded by the European Union through the European Health and Digital Executive Agency (HaDEA) as part of the HORIZON-HLTH-2024-DISEASE-03-two-stage call. Views and opinions expressed are those of the author(s) only and do not necessarily reflect those of the European Union or HaDEA. Neither the European Union nor HaDEA can be held responsible for them.
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For FH-EARLY Consortium inquiries, please contact:
Mr André Chagas
Senior Project Manager
Cardiovascular Centre of the University of Lisbon / AIDFM
andre.chagas@medicina.ulisboa.pt
For FH-EARLY at FH Europe Foundation, please contact:
Ms Magdalena Daccord
CEO
FH Europe Foundation
md@fheurope.org
FH-EARLY is a Horizon Europe-funded initiative dedicated to transforming care for familial hypercholesterolemia through groundbreaking innovations in early diagnosis, risk stratification, and co-management. By leveraging the latest technology, social science, and patient-centered design, FH-EARLY aims to improve outcomes for millions of individuals worldwide.
FH Europe Foundation is excited to announce our attendance at the prestigious EURORDIS Black Pearl Awards on Monday, February 24, 2025, in Brussels.
This annual event, taking place in February, which also marks the occasion of Rare Disease Day, celebrates the outstanding achievements of people living with a rare disease, along with those who go that extra mile to make a difference in their lives.
The awards celebrate hard work, innovative thinking, and dedication to the rare disease community.
This year, in recognition of the advocacy efforts by the FH Europe Foundation Ambassadors, we asked the Ambassadors living with FCS and HoFH to nominate one from each group to attend the event and to represent the community, raising awareness of the rare familial hyperlipidaemias. We are proud to have two of our exceptional patient ambassadors nominated to attend in person along with our Community Engagement Manager.
Representing the FCS community, we have Helga Davidson from Scottland, whose dedication to raising awareness and FCS community support and education has made a significant impact over the past months. Joining her is Athanasios (Thanos) Pallidis from Greece, representing the HoFH community. Thanos's commitment to the cause is truly remarkable, having been nominated for the EURORDIS Young Advocate Award in 2021 for his tireless efforts in raising awareness about HoFH while managing the condition himself. His passion has contributed to improved global FH policy, patient advocacy, and increased awareness among the European medical community. Thanos was among the three finalists. Unfortunately, due to COVID restrictions in 2021, he was unable to attend the ceremony in person as it was held online. This year's event presents a special opportunity for him to experience the full impact of the Black Pearl Awards firsthand.
Accompanying the patient ambassadors will be Emma Print, FHEF’s Community Engagement Manager. Emma will use this valuable opportunity to connect and network with other peers from the international rare diseases’ community. “I believe this will be a very inspiring event! I look forward to meeting other incredible advocates from the rare diseases community and learning from them. I am sure we can put those insights to good use with the FHEF wider community, furthering our mission across all disease areas," said Emma.
Stay tuned for updates and highlights from the EURORDIS Black Pearl Awards 2025!
FH Europe Foundation proudly supports Rare Disease Day. We invite you to register for our Rare Disease Day webinar and participate in our campaign.
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: