The European Reference Network on Hereditary Metabolic Disorders (MetabERN) held its 9th annual board meeting in Copenhagen from 6 to 8 November 2025, with over 90 participants attending in person and online. Representatives from member centres, partner patient organisations, and the coordination team discussed the network’s achievements, ongoing projects, and future plans. The three-day meeting covered various topics including clinical trials, patient registries, and educational activities, with a focus on improving diagnostic processes and patient support for rare metabolic diseases.
Day 1 – Accomplishments and future plans
The first day of the meeting focussed the progress and future plans. The meeting was opened by Prof. Maurizio Scarpa, MetabERN Coordinator who kicked off the event and Dr. Allan Lund from Centre for Inherited Metabolic Diseases in Copenhagen University Hospital, Rigshospitalet, who welcomed the participants and introduced the talks from our first day’s guests: John Gerbild of Rare Disease Denmark – who presented the importance of the event at a local level – and Donata Meroni, Head of Unit in SANTE in the European Commission, who highlighted how the EC is supporting rare disease patients.
The following sessions included updates on the Clinical Patient Management System (CPMS 2.0), which is set to streamline processes and improve patient care, and highlighted progress on clinical practice guidelines in Inherited Metabolic Disorders (IMDs). Furthermore, updates on the U-IMD registry showed the increased number of patients now enrolled in the U-IMD registry, demonstrating that our collective efforts are making a real impact. A significant focus of the discussions revolved around the patient needs survey on Smith-Lemli-Opitz syndrome (SLOS), addressing the pressing issues of diagnostic delays and the critical need for robust healthcare support. The meeting also explored the need for comprehensive emergency protocols for metabolic diseases and discussed the ECHO model for knowledge sharing. During the meeting, a new MetabERN Exchange Programme aimed at fostering collaboration among member centres was also announced. The first day concluded with a fruitful patient board meeting, which focused on the development of webinars in collaboration with patient organisations and new webpages dedicated to patient resources.
Day 2 – Joint Actions and Collaborative Projects
The second day opened with an inspiring video message from MEP Vytenis Andriukaitis, emphasising the urgent need for a pilot research and innovation union to tackle fragmentation in rare diseases research and care.
Our guest speaker, Daria Julkowska, ERDERA’s Coordinator, provided insights into the European Rare Diseases Research Alliance (ERDERA), highlighting the need for an agile clinical research network aimed at accelerating diagnostics and treatment development. Prof. Giovanni Tosi, from the University of Modena and Reggio Emilia, Italy, presented the European Technology Platform on Nanomedicine (ETPN Association), and discussed nanomedicine’s potential in rare diseases, highlighting its ability to deliver targeted therapies across biological barriers and its recent advancements in cancer immunotherapy and CRISPR technology. Prof. Johannes Zschocke presented the latest version of the Online Inherited Metabolic Disease WebApp for metabolic diseases, the knowledge base platform for inborn errors of metabolism covering approximately 1,500 metabolic diseases and variants.
The morning session also focused on inter-ERN collaborations and the integration of ERNs into national healthcare systems. Efforts to establish a European research and innovation ecosystem for rare diseases were also discussed.
The meeting further addressed the challenges of conducting clinical trials for rare diseases in Europe and explored potential solutions through public-private partnerships and cross-border collaborations, highlighting best practices from other ERNs and showcasing the role of the EMA in clinical trials, with a focus on the Clinical Trials Regulation (CTR) and the Clinical Trials Information System (CTIS).
The day concluded with a powerful and touching presentation highlighting the incredible resilience of Ukrainian healthcare professionals as they strive to meet the needs of patients with Inherited Metabolic Diseases, despite facing tremendous ongoing challenges.
Day 3 – Scientific Day Dedicated to MetabERN Subnetworks
The last day of our Board Meeting was dedicated to the 7 subnetworks which represent the pillars of our network. These subnetworks focus on distinct disease-specific groups covering over 1400 rare genetic pathologies. Leaders from all subnetworks provided comprehensive updates on their initiatives and shared insights on cross-cutting activities. The AOA Subnetwork highlighted the importance of neurocognitive assessments and newborn screening, and addressed issues related to diagnostic delays. The LSD Subnetwork focused on projects reassessing treatment availability and home therapies. The NOMS Subnetwork highlighted achievements in registries, educational initiatives, and network structure. The C-FAO Subnetwork underscored the need for global guidelines on inherited metabolic disorders. The CDG Subnetwork reported advancements in clinical trials and research, while the PD Subnetwork discussed organisational strategies and future plans for peroxisomal disorders research and care. Finally, the PM-MD Subnetwork shared insights on guidelines and patient journeys.
Overall, the meeting underscored the collaborative efforts and ongoing progress within each subnetwork, aiming to enhance patient care and optimise treatment strategies.
A heartfelt thank you goes to all our speakers and participants for their invaluable contributions and for fostering an incredibly inspiring atmosphere during the MetabERN Board Meeting. It was truly remarkable to witness the dedication that everyone demonstrated, creating a strong sense of community and shared purpose in advancing research and care for patients with IMDs.
