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less than a week to go before our Winter School on "Challenges of Treating Rare Neurological Diseases" (12-14 March, online) with more than 800 registrations starts - and you can still register!
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An important survey for public consultation on rare diseases has been launched by the Committee of Public Health of the European Commission on Rare Disease Day - as it is directly related to the work done in ERNs and thus for their future funding, we would like to ask you to take some time and fill in that survey.
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And don't forget to follow us, JARDIN, ERDERA and many more on BlueSky - we will be leaving X this month.
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And as always you will find information on our upcoming webinars and events. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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CONTENT
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About us
Disease Knowledge
ERN-RND Webinars
Cross-border Healthcare
Participation Calls
Upcoming Events
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ABOUT US
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“Does current policy meet the needs of the rare neurology community” and “The impact of rare neurological conditions, through the lifecourse”- those were the two panel discussions at EFNA’s meeting “Shaping the Future: Policy Responses to Rare Neurological Challenges” with the MEP Interest Group Brain Health and Neurological Conditions on February 19 in Brussels.
(European) Patient Organizations, represented through Arabela Acalinei (European Alliance of Neuromuscular Disorders Associations), Merete Haaseth Avery (Dystonia Europe), Jean-Philippe Plançon (European Patient Organisation for Dysimmune and Inflammatory Neuropathies), José Ángel Aibar (Dravet Syndrome Foundation Spain) and Lutgarde Allard (European Myasthenia Gravis Association), ERN-RND coordinator Holm Gaessner and MEPs Billy Kelleher, Tilly Metz, Tomislav Sokol, Margarita de la Pisa Carrión, Ondřej Dostál and Romana Jerković attended this meeting.
Holm Graessner emphasized the importance of ERNs – on European as well as on national level – and thus the need to sustain them in the future. He also encouraged to make more use of the ERNs, also in regards to research and HTA (Health Technology Assessment) purposes – the MEPs were fully supportive towards those policy asks.
Watch the recorded meeting here.
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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.
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To register click here. To download programme click here.
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For this year’s Rare Disease Day, the ERN-RND coordination office prepared something special to help raise awareness for rare diseases: a short video. Take a look here!
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And there is also new material on Rare Diseases by the European Commission:
2 Factsheets and a booklet on ERN Success Stories - the ERN-RND patient journeys are on p.14-15.
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Find them all here (bottom of the page).
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Neuroradiology is a rapidly emerging field and can help in diagnosing rare neurological diseases, when other methods fail to do so: "I remember the case of a young child, suffering from an uncler dystonic movement disorder, which already had been gone through a long journey of doctor visits, but the answer was still unclear" - revealed neuroradiologist Eva Bültmann in our interview on a case where the ERN-RND neuroradiology advice panel has helped finding a diagnose. She also talks about the benefits of neuroradiology in general and the importance of the ERN network.
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Eva Bültmann is an expert in neuroradiology and coordinates the ERN-RND Neuroradiology Expert Advice Panel. Do you also have patients with unclear diagnosis and want to discuss those cases with other experts? Then submit your case via email here!
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Find out more about our Neuroradiology Advice Panel below.
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Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
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ERN-RND has established a standard pathway for providing expert neuroradiological advice across sites. Our ERN-RND member hospitals (and affiliated partners) are encouraged to contact us for any RND case for which they would like a second opinion as a basis for individual recommendations for diagnostic and management strategies to optimize patient care.
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Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
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- Child with mild developmental delay: benign / onset of disease? -> cMRI: delayed brain maturation vs. (subtle) structural abnormalities
- Child with delay + subtle signs: acquired / genetic? -> cMRI: acquired disease, e.g. CMV infection / TORCH vs. likely genetic
- Acutely ill patients with suspected encephalopathy -> cMRI: secondary, e.g. infectious / para-infectious vs. metabolic / genetic
- Cerebellar syndrome with fast progression -> cMRI: secondary, e.g., cerebellitis vs. genetic
- Patient after pharmacological treatment showing brain volume reduction -> cMRI: side effects vs. neurodegenerative / neurogenetic disease
To make use of this opportunity, imaging data must be provided via CPMS. Advice will be provided in a virtual meeting between the referring physician plus the initial neuroradiologist and a dedicated ERN-RND neuroradiological expert clinician (and further experts if necessary. Meetings are facilitated by the ERN-RND CPMS helpdesk.
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You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
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Interview: "de neuroloog" with Holm Graessner about the neurological ERNs
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What do centres of expertise gain from participating in an ERN?
Graessner: An immediate advantage is that when doctors at such a centre of expertise are not sure of the right diagnosis or treatment, they can refer to the ERN's multidisciplinary team consultation. Several experts in Europe then meet online to discuss the patient and form a recommendation for the referring centre of expertise. Other benefits include that ERNs maintain registries with data on patients with the relevant conditions, provide training to doctors, and develop guidelines, care standards and clinical decision support tools.
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What do patients gain from this?
Graessner: Our slogan is: knowledge travels, not the patient. So in most cases, patients can visit a centre of expertise in their home country and get diagnostics and treatment through that centre, accessing the ERN expertise whenever needed. Another advantage for patients is that ERNs develop so-called patient journeys. These are visual overviews of the disease symptoms and care needs a patient may experience during different stages of the disease. These materials are now available for different disease groups and in several European languages (ERN-RND, EURO-NMD, epiCARE) In this way, patients can quickly and easily obtain knowledge about the disease, which incidentally also applies to family members and non-specialist doctors.
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How do you see the near future of ERNs?
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Graessner: After a development phase of several years, the ERNs are now to the point where they clearly add value, but there are still some important areas for improvement. The various centres of expertise are connected, but integration into national healthcare systems lags behind, for example when it comes to the national adoption of guidelines and care standards from the ERNs. To improve this integration, a three-year project called JARDIN was launched in early 2024. Another bottleneck is funding. So far, only the centres coordinating the networks, one centre per network, receive funding from the European Commission. Such a reimbursement is also needed for the other centres of excellence in the network, because participating in an ERN is now extra work and that is not sustainable in the long run.
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(Excerpt from the interview with Holm Graessner by Moniek Veltman (for de neuroloog). The original article was published in Dutch here.)
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FOLLOW US ON BLUESKY
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Also on BlueSky: JARDIN, ERDERA, The European Commission, ERN eUROGEN, ERN VASCERN, ERKNet, MetabERN, EFNA, EURORDIS, ESHG, EAN, European Brain Council - add us all, many more will follow!
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DISEASE KNOWLEDGE
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UPDATED Clinical Management Guidelines for Friedreich's Ataxia (2022)
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The Clinical Management Guidelines for Friedreich's Ataxia (FA) have been updated.
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ERN-RND WEBINARS
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Upcoming Joint Educational Webinars
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ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
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Next ERN-RND webinar will be on:
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18.03.2025, 3-4 pm CET | ‘Neurogeriatric Aspects of Huntington’s Disease and Chorea’ by Jean-Marc Burgunder, University of Bern, Switzerland, Neurology Clinic. SIGN UP here. (ERN-RND)
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20.03.2025, 4-5 pm CET | ‘Peripheral Nerve Imaging with Focus on Inflammatory Neuropathies’ by Nens van Alfen, Radboud University Medical Center, Nijmegen, the Netherlands,Stephan Goedee, University Medical Center, Utrecht, the Netherlands. SIGN UP here. (EURO-NMD)
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25.03.2025, 3-4 pm CEST | ‘The ERN-RND Diagnostic Flowcharts: A Clinical Algorithm for the Diagnosis of Ataxias and Hereditary Spastic Paraplegias’ by Elisabetta Indelicato and Enrico Bertini. SIGN UP here.
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27.03.2025, 4-5 pm CEST | ‘Navigating Life with Dysimmune and Inflammatory Neuropathies: Q&A Session on Quality of Life and Management’ by Filip Eftimov and Patient representative, Filip Eftimov and Patient representative. SIGN UP here. (EURO-NMD)
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01.04.2025, 3-4 pm CEST | ‘Psychiatric and Neuropsychological Assessments in Huntington's Disease’ by Mayke Oosterloo. SIGN UP here.
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08.04.2025, 3-4 pm CEST | ‘Updates on the Management of Childhood-Onset Dystonia’ by Darius Ebrahimi-Fakhari and Kathryn Yang. SIGN UP here.
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06.05.2025, 3-4 pm CEST | ‘Palliative Care in Chorea and Huntington's Disease’ by Jean-Marc Burgunder, University of Bern, Switzerland, Neurology Clinic. SIGN UP here. (ERN-RND)
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13.05.2025, 3-4 pm CEST | ‘Neurogeriatric Aspects in Rare Forms of Ataxia annd HSP: Later on Clinical Manifestations and Secondary Symptoms’ by Eleni Zamba-Papanicolaou, Cyprus Institute of Neurology and Genetics, Cyprus. SIGN UP here. (ERN-RND)
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20.05.2025, 3-4 pm CEST | ‘Recent Advances in Clinical Trials in Multiple System Atrophy’ by David Bendetowicz. SIGN UP here.
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eanCampus offers monthly webinars, 2 master classes per year and weekly podcasts on 3 expert levels (basic, advanced, expert), in total more than 1000 pieces. The next webinar will be on:
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12.03.2025, 4-5 pm CET | ‘Biomarkers in Sleep-Wake Disorders’ by Lucie Barateau, Dario Arnaldi, Oriella Gnarra. More information here.
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CROSS-BORDER HEALTH CARE
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MLD Treatment Eligibility Panel
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In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
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We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
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You would like to discuss one of your patients with the panel?
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Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
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ERN-RND has established a standard pathway for providing multidisciplinary expert recommendations concerning Deep Brain Stimulation (DBS) in Dystonia.
Potential questions which the multidisciplinary board may address include (but are not limited to):
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- INDICATION DBS candidate yes/no?
- TARGET Which Target; GPi, STN, VoA?
- PROGRAMMING Treatment advices of implanted patients
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To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
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Advice will be provided by at minimum one dystonia expert specialized in DBS and a stereotactic surgeon specialized in DBS, plus further specialists invited case-by-case in a virtual meeting with the referring clinician.
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Meetings are facilitated by the ERN-RND CPMS helpdesk.
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NEXT ONLINE MULTIDISCIPLINARY BOARD MEETING (DBS IN DYSTONIA):
Thursday, 20/03/2025, 4 – 5 PM CET (Amsterdam/Berlin/Rome)
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Case submission is possible until 03.03.2025
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PARTICIPATION CALLS
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IMPORTANT Public Consultation on Rare Diseases by the Public Health Committee of the European Parliament
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The Committee on Public Health (SANT) of the European Parliament has launched a public consultation on rare diseases on 28 February 2025. The purpose of this public consultation is to provide a basis for the forthcoming work in bringing a better understanding and detailed knowledge of the challenges of persons affected by rare diseases and views of persons working with or involved in rare diseases.
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This is directly related to the work done in the ERNs. So please, take some time to fill in this survey and help sustain the funding for ERNs.
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The survey is open till end of March. To the survey.
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DBS matchmaker – Connecting Clinicians for Rare Movement Disoders
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Deep brain stimulation (DBS) has proven to be an effective treatment for both pediatric and adult patients with dystonia and other hyperkinetic disorders, and evidence is continually emerging to support its use in an expanding range of monogenic movement conditions. While some disorders, such as TOR1A-related dystonia, are well-established indications for DBS, many rare and ultra-rare movement disorders remain less understood. As a result, individual centers often have limited experience, with decision-making frequently guided by anecdotal observations rather than robust data.
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To bridge this gap, DBSMatchMaker was developed to connect clinicians around the world - enabling them to determine the appropriateness of DBS for patients of all ages and to provide guidance on therapy adjustments for those already treated. By facilitating global collaboration, DBSMatchMaker aims to improve patient selection, counseling, treatment strategies, and overall outcomes for individuals with rare movement disorders.
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UPCOMING EVENTS
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EESC CONFERENCE (April 2025)
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Conference 'Towards an EU action plan on rare diseases'
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The European Economic and Social Committee (EESC), the Polish Ministry of Health, and the Medical University of Warsaw is holding a major conference entitled Towards an EU Action Plan on Rare Diseases on 10 April 2025 at 9 a.m. at the Medical University in Warsaw, Poland.
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The conference will take place under the auspices of the Polish Presidency of the EU Council and will serve as a key milestone in ongoing efforts to shape an effective and comprehensive European strategy on rare diseases.
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The event will focus on developing a European policy framework for rare diseases, complementing existing legislation, promoting investment, and enhancing cooperation at EU and national levels. A key goal is to advocate for a comprehensive European Action Plan on Rare Diseases with clear, measurable objectives.
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Holm Graessner (ERN-RND coordinator): "Patient registries and data sharing in the ERN environment"
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Lori Renna Linton (ERN-RND patient representative): "The rare diseases patient journey experience"
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SYMPOSIUM ON LEUKODYSTROPHIES
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Leukodystrophy Teaching Course and Symposium
May 21-23, Amsterdam UMC
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Due to its 25th anniversary as well as the retirement of its founder, Marjo van der Knaap, the Amsterdam Leukodystrophy Center invites to a symposium on May 22-23, 2025.
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The symposium is focusing on the latest advancements in leukodystrophy research, including novel insights into disease concepts, pathomechanisms, and treatment approaches. Additionally, on the afternoon of May 21, they will host a specialized course on leukodystrophies.
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58th European Human Genetics Conference
24-27 May, Milan (Italy) and online
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1st Paediatric Movement Disorders Conference
June 06-08, Boston, MA, USA
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The MDS-PAS Pediatric Movement Disorders Course will provide a state-of-the-art review of current practices, controversies, and active areas of research in pediatric movement disorders. This program will bring together the pediatric movement disorders community to discuss topics pertinent to specialists, neurologists, researchers, and clinicians from adjacent fields of neurosurgery and genetics.
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11th Congress of the European Academy of Neurology
June 21-24, Helsinki and online
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The overarching theme for the EAN Congress 2025 in Helsinki explores the multifaceted relationship between neurology and society. The topic particularly challenges our practice since our society impacts the progress, priorities, and relevance of neurology, and, conversely, neurology influences decisions and developments in society. This creates a highly complex and consequential set of interactions that affect all of us - professionals and patients alike.
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37th Annual Meeting of EACD & 4th Triennial Meeting of IAACD
June 24-28, Heidelberg, Germany and Online
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The combined congress of the European Academy of Childhood Disability together with the International Alliance of Academies of Childhood Disability (EACD-IAACD) will be a hybrid event.The online transmission during daytime will also be supported by 24hour-online live sessions on 26th and 27th June enabling for the first time active worldwide participation.
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Ataxia Teleangiectasia Conference
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Ataxia Teleangiectasia Clinical Research Conference 2025
June 25-27, Loughborough, UK
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The AT Society, in collaboration with the A-T Global Alliance, will be hosting the AT Clinical Research Conference, which aims to bring together the world’s leading AT scientists and clinical experts to collaborate, share ideas and drive forward solutions to improve patient outcomes. It will focus on research and clinical advancements in AT, with topics covering diagnostic challenges, immunology, respiratory medicine, cancer, and more. It’s an incredible opportunity to collaborate, learn, and network with leaders in the field.
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The conference is conveniently taking place in the heart of England, on the site of an outstanding UK university, with typically British villages just minutes away, Shakespeare’s birthplace and one of the UK’s best loved national parks within easy reach, and only 90 minutes from London.
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16th European Paediatric Neurology Society Congress
July 8-12, Munich, Germany
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The 16th EPNS Munich Congress will classify the field into A for acute, B for Brain, Health & Science and C for Chronic. This way an own alphabet of research and care taking is created: dedicated to the children, equipped for the extending variety of neuropaediatric diseases, stimulating and integrating science.
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Find more Information here.
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NEWSLETTER
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The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly here or by emailing communication@ern-rnd.eu
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Thank you for your support and take care.
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ERN-RND Coordination team
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