The High-Level Meeting on European Research and Innovation for Rare Diseases (HLM Rare 2025) convened senior leaders from science, healthcare, patient organisations, industry, and EU institutions with a clear objective: to move Europe’s rare disease ecosystem from fragmented progress to coordinated delivery.
Led by the Brains for Brain Foundation, the meeting brought together stakeholders spanning clinical research, European Reference Networks (ERNs; learn more here), patient advocacy groups, regulators, and policymakers. The ambition was explicit and shared—to accelerate diagnosis, improve access to therapies, and align investment and policy through a pan-European Declaration that could reshape rare disease research and care across all 27 EU Member States.
The programme was structured around three strategic pillars, each addressed over a dedicated day.
Day 1: Research and innovation. Discussions centred on closing gaps in Europe’s clinical research landscape and strengthening its global competitiveness. Leaders from organisations including the EMA, HaDEA, and EU institutions explored how to streamline clinical development, improve trial readiness, and better connect scientific discovery with patient benefit.
Day 2: Infrastructure and skills. Attention shifted to the foundations needed to sustain innovation at scale, with a strong focus on the ERNs. Sessions addressed data and artificial intelligence, newborn screening, registries, and workforce development. A highlight was a high-level panel featuring Vytenis Andriukaitis, Nathalie Moll, and Professor Maurizio Scarpa, which examined how cross-sector collaboration can underpin a modern, integrated rare disease system in Europe.
Day 3: Policy and funding. The final day focused on enablers—regulatory pathways for earlier patient access, the case for an EU-wide Action Plan for Rare Diseases, and how future EU budgets could be aligned to support these goals. Central to these discussions was the launch of work towards a European Declaration designed to guide priorities, incentives, and resource allocation across Member States.
For individuals and families living with Homozygous Familial Hypercholesterolaemia (HoFH) and Familial Chylomicronaemia Syndrome (FCS), the outcomes of HLM Rare 2025 are particularly relevant. These rare inherited lipid disorders are often marked by delayed diagnosis, limited specialist expertise, and uneven access to advanced therapies.
The meeting’s emphasis on faster diagnosis, data-driven innovation, strengthened ERNs, and more predictable access pathways directly aligns with the unmet needs of the HoFH and FCS community. A more coordinated European approach offers the prospect of earlier identification, more consistent standards of care, and improved access to specialist treatment across borders.
A strong and unified patient voice
Patient organisations played a prominent role throughout the meeting. Retina International and EURORDIS, represented by Avril Daly, stressed the importance of a unified stakeholder community to drive an EU Action Plan or Mission, emphasising that scientific advances must translate rapidly into real-world benefits for patients.
ERN BOND highlighted the significance of the intensive three-day programme, noting that the emerging Declaration represents a concrete step towards aligning research, infrastructure, and access. The International MPS Network reinforced this message, underlining the Declaration’s potential to create clearer innovation pathways and improve access to therapies. Collectively, these contributions reflected a shared commitment to collaboration, acceleration, and patient-centred outcomes.
One of the clearest messages from both the formal agenda and side discussions was that public–private collaboration is no longer theoretical—it is already delivering results and should now be scaled.
Examples cited included EFPIA’s Rare Disease Moonshot, which demonstrates how structured public–private partnerships can address research gaps, accelerate clinical development, and create system-level solutions through aligned incentives and shared infrastructure. Similarly, Together4RD showcased ERN–industry pilots that have moved from concept to implementation. A notable example was the collaboration between ERN EuroBloodNet and Takeda on an AI-supported diagnostic pathway for thrombotic thrombocytopenic purpura (TTP), alongside further pilots on registries and diagnostics discussed at WODC Europe.
The consensus was clear: these “moonshot-style” initiatives are already in motion and generating value. With robust governance, transparency, and data-sharing frameworks, they could be expanded across ERNs to deliver consistent, Europe-wide impact.
Common practices as the backbone of scale
Another consistent theme was the need for common practices and shared platforms as the foundation for progress in rare disease care. Interoperability and harmonisation were repeatedly identified as prerequisites for effective cross-border care and for multinational clinical trials coordinated through the ERNs.
Discussions highlighted the importance of dedicated operating platforms for registries, consent, data standards, and evidence generation. Sessions on the European Health Data Space (EHDS), data-driven innovation, and real-world evidence reinforced the case for interoperable data infrastructures. Leaders from ERNs and collaborative initiatives such as ERDERA and Together4RD described ongoing work to develop templates for partnerships, data reuse, ethics, and conflict-of-interest management—helping shift Europe from isolated pilots to portfolio-level collaboration.
Skills are as strategic as technology
Day 2 also underscored that infrastructure alone is insufficient without a sustainable skills pipeline.
Donata Meroni, Head of Unit B3 ‘Health monitoring and cooperation, Health networks’ at the European Commission, emphasised workforce development and capacity building, pointing to the potential of ERN Academy-style models and structured upskilling for rare disease professionals. Professor Marta Mosca, Coordinator of ERN ReCONNET, illustrated how guidelines, registries, and multidisciplinary care models can be translated into scalable capacity across Member States.
The conclusion was unambiguous: a formalised ERN Academy, harmonised training pathways, and protected, funded time for clinicians are prerequisites for any sustainable EU-wide operating model.
Connecting stakeholders for impact
The fireside chat with Vytenis Andriukaitis, Nathalie Moll, and Professor Maurizio Scarpa—under the theme “Connecting stakeholders for impact: building the infrastructure of a modern rare disease Europe”—distilled many of the meeting’s core messages. The panellists argued for moving decisively beyond fragmented initiatives towards structured public–private partnerships that align goals, data, and infrastructure from the outset, supported by common practices and shared governance.
Looking ahead: alignment with the Cypriot EU Presidency
Building on the momentum generated in Brussels, strengthening collaboration with leaders shaping Europe’s research and health agenda is now a strategic priority. In this context, our CEO had the opportunity to meet with Dr Konstantinos Kleovoulou and Professor Leonidas Phylactou, ahead of the upcoming Cypriot EU Presidency and our own High-Level Meeting under the auspices of Cyprus.
These discussions underscored the importance of continuity between EU-level policy ambition and national leadership in research and innovation. As Cyprus prepares to play a more prominent role in shaping Europe’s agenda, aligning priorities around rare diseases—particularly in areas such as research coordination, data infrastructures, and equitable access to innovation—will be essential to translating the European Declaration from intent into implementation.
From alignment to action
HLM Rare 2025 marked a shift in tone and intent for Europe’s rare disease community. The emerging European Declaration provides a focal point for translating shared ambition into coordinated action—directing resources, aligning incentives, and enabling equitable access to innovation across all Member States.
For rare disease communities, including those affected by HoFH and FCS, the message is clear: Europe is moving from vision to delivery. The challenge now is to sustain momentum and ensure that commitments made in Brussels—and reinforced through upcoming EU Presidencies—translate into measurable improvements in diagnosis, care, and outcomes for patients across Europe.
Prepared by
Elsie (Cindy) Evans,
FH Europe Foundation Ambassador Programme Manager
Recently, US health regulators (the Food and Drug Administration, FDA) green‑lit a new treatment for adults with familial chylomicronaemia syndrome (FCS), a rare and often devastating genetic disease. For people who face this condition every day, the decision represents more than just a new drug on the market. It offers real hope for a life with fewer crises, less fear, and more normality.
FCS is caused by inherited mutations (most commonly affecting the enzyme lipoprotein lipase, or LPL) that impair the body’s ability to break down certain fats carried in the blood called chylomicrons.
As a result, affected individuals often have dangerously high triglyceride levels, sometimes above 880–1,000 mg/dL (much higher than the normal range). This can lead to frequent, severe episodes of acute pancreatitis, chronic abdominal pain, digestive problems, fatigue, “brain fog,” and other complications like diabetes or liver issues.
The condition imposes a heavy daily burden: many patients must follow a very strict, extremely low-fat diet (often less than 15−20 g of fat per day), avoid alcohol and simple sugars, and live with a constant risk of sudden, life-threatening pancreatitis.
Because of its rarity and severity, FCS has historically lacked targeted treatments; a reality that has long left patients and physicians frustrated and anxious.
The newly approved therapy works by silencing a gene that produces a protein called apolipoprotein C-III (apoC-III). In people with FCS, apoC-III contributes to the accumulation of triglyceride-rich chylomicrons by slowing down their clearance from the blood. By reducing the production of apoC-III in the liver, the drug enables much faster breakdown and removal of these fat particles, helping to bring triglyceride levels down dramatically and sustainably.
In a pivotal clinical trial, patients receiving the drug saw a median reduction of around 80% in triglyceride levels, and, more importantly, a significant reduction in the risk of acute pancreatitis, a life-threatening complication.
For people living with FCS, these results could be life-changing. The prospect of fewer hospitalisations, fewer pancreatitis attacks, and a more manageable everyday life could lift a heavy burden. For many families, this approval brings hope for a future that feels closer to normal.
Beyond the numbers, the psychological and social impact may also be profound. Patients often describe FCS as invisible to others but ever-present in their daily lives, with diet restrictions, fear of flare-ups, and anxiety about long-term health. This new therapy could offer relief not only to the body, but also to the mind.
While this approval marks a major advance, it does not eliminate all challenges. The treatment is intended as an adjunct to diet, not a replacement for healthy eating and lifestyle adjustments.
Moreover, long-term real-world experience remains to be gathered: how the therapy performs over many years, how accessible and affordable it will be to patients worldwide, and how individuals will adapt their lives around it.
Still, for a community that has long endured uncertainty, severe restrictions, and life‑threatening crises, this represents a turning point. It is a message that science can, and does, deliver hope.
Read the official press release here.
(this announcement contains information originally published by Arrowhead Pharmaceuticals. We are sharing it for general awareness because it may be relevant to people affected by FCS. This link directs to external content created by Arrowhead Pharmaceuticals and sharing it does not imply endorsement of any product, treatment, or organisation.)
Prepared by
Dr. Marina Leroy,
FH Europe Foundation Scientific Communications Manager
November brought strong progress for FH Europe Foundation, with impactful advocacy, a successful Annual Network Meeting and growing recognition for prevention-focused projects.
FH Europe Foundation News:
Ambassador Programme News
Research & Community Engagement:
Network News & Partner News:
News from around the World:
Knowledge Hub:
Events:
Magdalena Daccord, CEO of the FH Europe Foundation, has been selected by the World Health Organisation (WHO) as an expert member of the Guideline Development Group (GDG) on dyslipidaemia.
She will contribute strictly in her individual and independent capacity, in full accordance with WHO rules, and not on behalf of any organisation.
The WHO, the United Nations agency responsible for global public health, has launched the development of a new global guideline on the management of dyslipidaemia for the primary and secondary prevention of cardiovascular disease.
WHO guidelines are not legally binding, but they do carry significant global influence. Their impact comes from their role in setting international standards and shaping national policies and clinical practice, particularly in low- and middle-income countries. The degree to which countries adopt WHO guidelines depends on the strength of the evidence, the clarity of the recommendations, and how well these align with national priorities and health systems. While WHO cannot enforce implementation, its authority as a global health body and the high uptake of strong recommendations give its guidelines considerable weight worldwide.
The forthcoming guidelines will focus exclusively on adults aged 40+, reflecting WHO’s mandate to address cardiovascular risk in mid-life and older populations.
However, early expert exchanges already highlight a crucial truth: For inherited (genetic) lipid disorders—such as familial hypercholesterolaemia—screening and detection must begin as early in life as possible.
Early diagnosis has a lifelong impact on cardiovascular outcomes, and we hope future global recommendations will reflect this essential need.
FHEF is also proud to note the selection of two exceptional lipid experts with strong ties to our community: Prof. Jeanine Roeters van Lennep and Prof. Kirsten Holven.
Their expertise significantly strengthens the scientific foundation of this important global effort.
Biographies of the proposed members of the Guideline Development Group (GDG) are available here.