Interested in Registries for Rare Neurological Diseases? Then join our Scientific Symposium on October 10 – online and free of charge! To register click here.
PROGRAMME
Session 1: Framework for RND Registries
TIME (CET)
TOPIC
SPEAKER
08:00
Welcome and overview of ERN-RND activities
Holm Graessner / Ludger Schöls / symposium chairs
08:05
—–KEYNOTE —- Why Registries Matter for Rare Neurological Diseases: from Natural History to Trial Readiness
Thomas Klockgether, German Centre for Neurodegenerative Diseases (DZNE), University Bonn, Germany
08:35
Framework for Multistakeholder Patient Registries in the Field of Rare Neurological Diseases
Nicole Wolf, Amsterdam UMC – Amsterdam University Medical Center, Netherlands
08:55
Patient Perspective: What should registries deliver for patients and families?
Mary Kearney, FARA Ireland
09:05
Flash talks (5 min max): ERN-RND local registry initiatives
09:20
Coffee Break
Session 2: Registry Examples in ERN-RND
TIME (CET)
TOPIC
SPEAKER
09:50
ERN-RND Use Case
Christina Vossler-Wolf, University Hospital Tübingen, Germany
10:05
TreatHSP Natural History and Outcome Validation Platform
Rebecca Schüle, University Hospital Heidelberg, Germany
10:25
The French MSA registry
David Bendetowicz, CHU – Reference Center for Rare Multiple System Atrophy, University Hospital Bordeaux, France
10:45
NKX2-1 registry: Building an International Disease Registry in a Very Rare Disorder
Dario Ortigoza, Sant Joan de Déu Hospital, Barcelona, Spain
11:05
Panel Discussion
11:30
Coffee Break
Session 3: Regulatory and Methodological Perspectives
TIME (CET)
TOPIC
SPEAKER
12:00
Registry Qualification and Regulatory Expectations for Rare Disease Evidence Generation
Kelly Plueschke, European Medicines Agency
12:25
Natural History Studies as Historical Control Data in Trials
We are proud to present the first UEMS approved medical training on Rare Neurological Diseases, which we’ve launched during this year’s EAN Congress on June 28: our ERN-RND Postgraduate Curriculum!
The curriculum is divided into three parts:
webinars and readings
virtual patient cases
and a stay in an expert-centre for hands-on-training
We are starting now with the first module on Ataxias and Hereditary Spastic Paraplegias with 33 webinars and 8 virtual patient casses – the other disease groups, like Huntington’s Disease, Leukodystrohpies or Dystonias will follow soon. The webinars and patient cases are hosted at eanCAMPUS.
The curriculum is free of charge and is made for medical doctors who have completed general professional training and are either in accredited specialist training or board-certified in Neurology, Child Neurology or related RND specialties such as Medical Genetics. After sucessful completion of all three parts trainees will receive a European certificate in the competency “Rare Neurolgical Diseases”(UEMS approved).
Our curriculum is designed to fit alongside specialist training or clinical employment.
To learn more about the curriculum and how to apply (till October 31) click here.
Like every year our ePAGs visit one of our expert centers to learn more about their work and how they organize care for patients with rare neurological diseases. This year, on 4 June 2026, seven of us — along with our project manager and communications manager — found ourselves in the beautiful city of Prague at Motol University Hospital. This visit was made possible through Julie Nováková Martínková, ERN-RND Disease Group coordinator for Frontotemporal Dementia (FTD) and clinician at Motol as well as Martin Vyhnalek, associate professor at Motol, who generously helped organize the exchange. What impressed us most was the excellent national awareness of this center: They educate neurologists across the country, enabling rapid expert consultation—within just two months. The pediatric and adult teams meet regularly, ensuring a smooth transition to adult care.
As patient representatives in ERN-RND, our main objective was to understand how ERN membership integrates into their clinical practice.
Motol is the only national reference center for ataxias and HSPs (Hereditary Spastic Paraplegias) in the Czech Republic, actively following more than 500 patients with these conditions. They also serve as one of three national expert centers for FTD. Notably, they have introduced a new Care Coordinator role that bridges the expert center with local facilities—a model that strengthens their reach and improves continuity of care.
The meeting began with a comprehensive presentation from the hospital team, followed by a tour of the laboratory and neurology department, where we learned about the diagnostic tools they use for early detection, enabling faster and more accurate diagnoses.
The most engaging and memorable part of our visit was an interactive session with the speech therapists, whose role in neurology is critical. They explained that their work extends far beyond speech to include non-verbal communication and dysphagia management. They demonstrated practical exercises used with patients, inviting us to participate. We blew bubbles to strengthen our vocal cords and practiced the Mendelsohn and Masako maneuvers—targeted swallowing exercises designed to strengthen throat muscles, improve coordination, and prevent aspiration. This hands-on experience gave us profound insight into the daily work of rehabilitation and the dedication required to support patients with these conditions.
In attendance were hospital clinicians and two patient representatives: Tomáš Pick, representing ataxia patients, and Jakub Šunek, who is in the early stages of developing the first HSP patient organization in the Czech Republic. Their inclusion demonstrates this center’s genuine commitment to patient-centered care and collaborative decision-making—a sign that they truly care about and are invested in helping their patients.
Particularly exciting is the opportunity to continue working with Jakub. As an advisor to EuroHSP, I will be connecting him with the organization as he builds the Czech HSP patient community. This collaboration could significantly strengthen support for HSP patients in the region and represents the kind of international partnership that ERN membership enables.
The team identified important opportunities for improvement. A critical barrier emerged: lack of awareness among policymakers and healthcare systems about rare diseases and what specialized care they require. Without this foundational understanding, ERN expertise and the time-intensive consultations that save lives remain undervalued and underfunded. With sustainable support for ERN activities and better recognition of these complex consultations, they would be able to expand their team and hire additional coordinators and administrative staff.
Yet our dialogue confirmed what became clear throughout the visit: we share common goals. We work on the same challenges from different perspectives—challenges that ultimately require the attention of politicians and governmental departments. This visit reinforced that patient voices, clinical expertise, and policy advocacy must work together to create real change for people living with rare neurological diseases.
Lori Renna Linton (collaborative writing with the ePAGs)
Our coordinator Holm Graessner will introduce our new Postgraduate Curriculum at this year’s EAN Congress. Don’t miss it and join us on Sunday, June 28 at 10:35 CEST (Scientific Theatre)!
Holm Graessner: Advancing Care for Patients with Rare Neurological Diseases – the Development of a Postgraduate Curriculum
The European Reference Network (ERN) flagship manuscript has just been published in the Orphanet Journal for Rare Disease. The manuscript provides an overview of what ERNs are, what they deliver and what they aim to become.
Short summary Although each rare and complex disease affects relatively few people, together they impact an estimated 27–36 million people in the European Union. To address this major public health challenge, the EU established the European Reference Networks (ERNs) in 2017. ERNs connect expert centres across borders to improve and harmonise diagnosis and care for patients with rare and complex diseases. Today, 24 ERNs link 1,606 expert centres in 375 hospitals across all EU Member States and Norway. Their work includes multidisciplinary case discussions, education, guideline development, and patient-centred governance. More than 4,900 highly complex cases have been reviewed without requiring patients to travel abroad, supported by the European Commission’s secure Clinical Patient Management System 2.0. ERNs also proved resilient during the COVID-19 pandemic and the war in Ukraine. A 2023 evaluation found that over 95% of member centres met quality standards. The Joint Action JARDIN (2024–2027) now seeks to embed ERNs into national health systems to ensure sustainable and equitable access to high-quality rare disease care.
Our ePAG Nataliya Grigorova received the Holistic Care Award for her work in the Bulgarian Huntington Association – Congratulations, and keep up the good work!
Last December’s High Level Meeting on a European Innovation and Care Ecosystem for Rare and Complex Diseases brought together policymakers, researchers, healthcare professionals, industry and the patient advocacy to help shape the future of rare disease policy in Europe.
This collective effort culminated in the Declaration on the EU Innovation and Care Ecosystem for Rare and Complex Diseases—a bold commitment to building a sustainable research and innovation ecosystem, supported by dedicated funding.
We, alongside many other European Reference Networks, have signed this Declaration and will actively work towards advancing its goals within our remit.
Our coordinator Holm Graessner is participating in the Brain Innovation Days’ Platinum Panel “Advancing Adaptive Pathways and Real-World Evidence for Orphan Drugs” on October 15th, 11:55 CEST.
This session will explore how adaptive pathways and Real-World Evidence (RWE), including patient-experienced data, can be more effectively integrated into policy frameworks to improve access to innovative treatments for rare brain disorders. With patients often facing long delays and limited options, there is a growing need to rethink how we evaluate and approve therapies. In partnership with Merck KGaA Healthcare, this session will bring together stakeholders from across the healthcare ecosystem and aims to identify collaborative, patient-centred policy solutions that accelerate access while ensuring long-term sustainability and equity.
ERN-RND is organising a Scientific Symposium on “European Healthcare for RND Patients” on October 28, which will be held online – participation is free.
Find the programme with abstracts of the talks here.
Are you at this year’s EAN Congress in Helsinki? Then come and visit us at our booth (N21) in the Neurohood and have a coffee with us – the ERNs EURO-NMD, epiCARE and EFNA, the European umbrella organisation of neurological patient advocacy groups, will also be there!
What is the use of Patient Registries? And how does data sharing in the ERNs work? Our coordinator Holm Graessner will give an insight on this at the EESC Conference “Towards an EU Action Plan on Rare Diseases” on April 10, 16:30 CEST.
And our patient advocate Lori Renna Linton will talk about Patient Journeys and how to develop one, at 12:00 CEST.
You can now register for online participation here. Find the programme here.
Find the recordingshere. Holm Graessner’s talk starts at 7:46:00, Lori Renna Linton’s talk at 2:35:00.
Rare Disease Day is coming up! Join us for shaping the future on policy for Rare Neurological Diseases on February 19, 10-12 CET. Join the meeting with the MEP Interest Group Brain Helath & Neurological Conditions together with our coordinator Holm Graessner as panelist.
Big thanks to the European Federation of Neurological Associations (EFNA) for this invitation! To participate on-site or online please register till February 5: https://www.efna.net/mep-february25/
The European Pediatric Neurology Society (EPNS) and the European Reference Network for Rare Neurological Diseases (ERN-RND) are organizing a Winter School on Challenges of Treating Rare Neurological Diseases.
The school will take place virtually, from 12th to 14th March 2025.
Day 1 Disease Modifying Therapies Day 2 Movement Disorders Day 3 Co-morbidities and Cases
