On the last Sunday of October, participants of the European Reference Network for Rare Neurological Diseases (ERN-RND) gathered in Tutzing for the network’s 9th Annual Meeting.
Prof. Holm Graessner, network coordinator, welcomed everyone and opened the meeting with an overview of the network’s activities. The ERN-RND team then shared updates on current projects. Carola presented focused initiatives aimed at reducing care inequalities and improving the quality of care across Europe.
Katerina reported on the dissemination of patient journey leaflets, now available in several languages, and highlighted the growing reach of ERN-RND’s social media channels—particularly on LinkedIn. She also encouraged participants to visit the ERN-RND YouTube channel to watch the new patient journey videos.
ePAG Workshop – The Patient Perspective
The ePAG (European Patient Advocacy Group) representatives held a workshop led by Sophie, who asked participants: “In your journey as a patient, what did you miss the most?”
From these discussions, 25 key needs were identified — including being taken seriously, having a coordinated care network beyond clinicians, addressing psychiatric aspects, and improving access to information about diseases and patient organisations etc.
Small group work led to a clear conclusion: knowledge, information, and awareness are essential. The group agreed to develop a template for a “support package” that could include disease and treatment information, patient organisations, clinical trial details, and patient journey materials. This package could later be adapted for each disease and translated into national languages, to be handed out by physicians to patients and carers.
Network Achievements and Updates
On Monday morning, local host Prof. Carla Palleis from LMU Klinikum in Munich welcomed participants and shared that her centre currently treats around 350 RND patients.
Prof. Graessner then presented an overview of ERN-RND’s goals and achievements.
The network’s main aim is to improve healthcare and healthcare equality for RND patients and families across the EU and Norway. Today, ERN-RND includes 68 expert centres in 24 EU countries, serving over 50,000 patients per year.
Specialised services within the network include next-generation sequencing, neuroimaging, botulinum toxin treatment, deep brain stimulation, stem cell transplantation, neurorehabilitation, and genetic therapies.
ERN-RND’s core activities cover cross-border healthcare (CPMS), professional training and education, the ERN-RND registry, guidelines and clinical decision support tools, patient journeys, and dissemination efforts.
The ePAG representatives of the ERN-RND network
Dystonia Group Highlights
The Dystonia disease group, led by Carola, met to discuss recent updates including a treatment algorithm for dystonia, a DBS matchmaker tool, and a revised diagnostic flowchart for adult dystonia. Dr. Martin Reich joined online to present the new Standard Operating Procedure for Pallidal Deep Brain Stimulation.
The Voice of the ePAGs
Lori presented the ongoing work of the ePAG group, beginning with a moving story of a parent of a child with a rare disease who, with her help, was connected to a European expert centre—an inspiring reminder of the network’s real-world impact.
She reported that more than 2,000 patient journey leaflets have now been distributed, and translation efforts continue. In 2026, the group plans to start developing the new “support package” materials.
The meeting also marked a transition in the ePAG team: Monika, Astri, and Juliane completed their terms—warm thanks for their contributions! The group welcomed new members: Edwige (Dystonia), Ruth (Huntington’s), and Lara (FTD).
Collaboration and Looking Ahead
In the final wrap-up session, all disease-specific working groups presented their 2025 activities and plans for the coming year. The evening continued with a lively poster session, where the patient journey work attracted much attention, alongside many other inspiring ERN-RND projects.
The last day of the meeting was dedicated to a symposium on Highly Specialised Therapies for ultra-rare conditions, featuring presentations on topics such as fetal surgery and Krabbe Disease Expert Panel. The meeting concluded with discussions on integrating ERNs into national healthcare systems.
Prof. Graessner closed the event by thanking all participants for their contributions and encouraged everyone to “team up and turn up”—a fitting message of collaboration and commitment to improving the lives of people living with rare neurological diseases.
Monika Benson, Executive Director, Dystonia Europe
Representatives of the ERN-RND network
