Highlights from Our Impactful Month of Collaborations and Meetings

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The last couple of months were an eventful and enriching time for our team as we participated in three significant meetings that brought together professionals dedicated to improving care for patients with inherited metabolic disorders (IMDs). Each meeting provided a unique opportunity to engage with experts and patient representatives, share knowledge, and discuss critical topics for our network.

Our first stop was the SSIEM Annual Symposium in Porto, a gathering that allowed us to connect with our members and other stakeholders. The symposium was a remarkable experience that highlighted the power of collaboration within the IMD community. We are extremely thankful to the Society for the Study of Inborn Errors of Metabolism (SSIEM) for providing us the platform to host two pivotal sessions. The first, in collaboration with the International Society of Neonatal Screening (ISNS), focused on innovative approaches in newborn screening (NBS), showcasing the latest advancements in this critical area. The second session focused on the progress our network has made in educating professionals about inherited metabolic disorders (IMDs). We also discussed the future of knowledge generation in our field and ways to enhance equitable access to diagnosis and treatment for rare metabolic diseases. After these two sessions, our Subnetworks had the opportunity to meet with their members and provide updates on the current status of their activities. The symposium not only reinforced our commitment to advancing research and education but also fostered connections that will undoubtedly lead to future collaborations and breakthroughs.

Just a few days later, we had the privilege of being present at the European Epilepsy Congress in Rome. This event was particularly notable, attracting nearly 3,000 attendees and featuring over 130 sessions with more than 400 speakers and presenters. Our team joined forces with colleagues from EpiCARE, ERN ITHACA, and Euro-NMD at an Inter-ERN booth, where we showcased the work being done within the Neurological European Reference Networks (ERNs). The turnout was impressive, and we are grateful to EpiCARE for including us in this collaborative initiative. A special thanks goes to the International League Against Epilepsy (ILAE), the congress organisers, for their hospitality and support. Engaging with attendees who were eager to learn more about our initiatives was incredibly rewarding.

The third meeting took place in Montesilvano at the “XIV Congresso Nazionale Simmesn,” hosted by the Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening (SIMMESN). MetabERN Italy held a dynamic roundtable event was an excellent opportunity for us to discuss the current status of our Italian National Hub. We delved into several critical topics, including a proposal for a new governance model, the Joint Action on Integration of ERNs into National Healthcare Systems (‘JARDIN’) and the essential transition from paediatric to adult care. Additionally, we explored harmonizing patient care following NBS diagnosis and the ongoing development of the U-IMD registry. The rich discussions we had during the meeting emphasised the need for collaboration and innovation in addressing the challenges faced by patients with IMDs.

As we reflect on these experiences, we extend our heartfelt gratitude to the organisers of all three events and to the participants who engaged with us. Your enthusiasm and commitment to advancing care for individuals with IMDs are truly inspiring. As we continue our mission to raise awareness for rare diseases and improve patient care, we are excited about what lies ahead. Stay tuned for more updates as we prepare for our upcoming MetabERN board meeting in Budapest next month, where we will continue to build on the momentum from these gatherings and work towards a brighter future for our patients.