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we are looking forward to our Scientific Symposium on "Registries for RND" taking place in less than a week! Join us online this Saturday, October 10, and register now (free of charge).
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Also new in October: our recommendations for newborn screening in metachromatic Leukodystrophy (MLD). And check out the video interview on this with our member Lucia Laugwitz, talking about the pilot program (2021-2023) in which over 100,000 newborns were screened for MLD, blood-spot samples were obtained for analysis and three newborns with MLD were identified, which made presymptomatic treatment possible.
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And as always you will find information on our upcoming webinars and further 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
Upcoming Events
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ABOUT US
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Join our Scientific Symposium "Registries for RND" online
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Don't miss to register for our Scientific Symposium "Registries for RND" on October 10! This will be organised back-to-back with the ERN-RND Annual Meeting (restricted to ERN-RND members). To attend the Symposium (open to all, free of charge) remotely, please register here.
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Session 1: Framework for RND Registries
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Welcome and overview of
ERN-RND activities
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Holm Graessner / Ludger Schöls / symposium chairs
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---------- KEYNOTE ----------
Why Registries Matter for Rare Neurological Diseases: from Natural History to Trial Readiness
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Thomas Klockgether, German Centre for Neurodegenerative Diseases (DZNE), University Bonn, Germany
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Framework for Multistakeholder Patient Registries in the Field of Rare Neurological Diseases
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Nicole Wolf,
Amsterdam UMC - Amsterdam University Medical Center, Netherlands
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Patient Perspective: What should registries deliver for patients and families?
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Mary Kearney, FARA Ireland
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ERN-RND local registry initiatives
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Session 2: Registry Examples in ERN-RND
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Christina Vossler-Wolf, University Hospital Tübingen, Germany
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TreatHSP Natural History and
Outcome Validation Platform
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Rebecca Schüle,
University Hospital Heidelberg, Germany
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David Bendetowicz,
CHU - Reference Center for Rare Multiple System Atrophy, University Hospital Bordeaux, France
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NKX2-1 registry: Building an International
Disease Registry in a Very Rare Disorder
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Dario Ortigoza,
Sant Joan de Déu Hospital, Barcelona, Spain
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Session 3: Regulatory and Methodological Perspectives
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Registry Qualification and Regulatory Expectations for Rare Disease Evidence Generation
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Kelly Plueschke,
European Medicines Agency
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Natural History Studies as
Historical Control Data in Trials
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Ralf Reilmann,
George-Huntington-Institute, Technology-Park Münster, Germany
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European Certificate for Ataxias and HSPs with our Postgraduate Curriculum for Rare Neurological Diseases
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Apply for the first UEMS approved medical training on Rare Neurological Diseases, and receive a European Certificate for Ataxias and HSPs with our ERN-RND Postgraduate Curriculum!
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The curriculum is divided into three parts:
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- webinars and readings
- virtual patient cases
- and a stay in an expert-centre for hands-on-training
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Our first module is 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.
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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).
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Our curriculum is designed to fit alongside specialist training or clinical employment.
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To learn more about the curriculum and how to apply (till October 31) click here.
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DISEASE KNOWLEDGE
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NEW Recommendations: Newborn Screening in Metachromatic Leukodystrophy
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Learn more about the importance of newborn screening in MLD in our video interview with our member Lucia Laugwitz:
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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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03.11.2026, 3-4 pm CET | ‘Diagnostic Flowcharts for Atypical Parkinsonism and Genetic PD‘ by Virginia Maltese, David Crosiers & Vasilios Constantinides. SIGN UP here. (ERN-RND)
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17.11.2026, 3-4 pm CET | ‘DBS in GNAO1‘ by Katerina Bernardi. SIGN UP here. (ERN-RND)
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19.01.2027, 3-4 pm CET | ‘Data Sharing and Quality of Data‘ by Judit Molnar. SIGN UP here. (ERN-RND)
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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.
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15 October, 3 pm CET | ‘Alzheimer’s Disease’, by Sebastian Palmqvist, Giordano Cecchetti, Catherine Mummery. More information here.
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November, tba CET | ‘Advancing CIDP Care: Integrating Targeted Therapies, Real-World Evidence and Emerging Biomarkers into Clinical Practice’. More information here.
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Free Courses for Healthcare Professionals, Caregivers & Family Members
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The Huntington Academy is a multinational, multilingual initiative designed to address the significant gaps in care provision for families impacted by Huntington’s disease (HD). Its mission is to empower the HD community through knowledge, skills, and collaborative learning, fostering improved care, advocacy, and quality of life.
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It is an innovative and comprehensive e-learning platform designed to provide accessible and high-quality educational resources for both formal (healthcare professionals) and informal (family members and friends) caregivers of individuals affected by HD. The Huntington Academy contents are available in four languages – Bulgarian, English, French and Spanish.
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The platform includes two transversal core courses — “What is HD? (HD basics)” and “Communication Skills in HD Care” — and seven domain-specific courses covering key disciplines in HD care (Neurology, Psychology, Nutrition, Physiotherapy, Speech Therapy, Occupational Therapy and Oral Care).
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All the Huntington Academy contents were jointly created by patient organizations, family members and healthcare professionals from the countries involved in the consortium.
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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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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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Learn more about the Neuroradiology Expert Advice Panel in this video interview with Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
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UPCOMING EVENTS
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Leukodystrophy Community Meeting
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Alex TLC Community Weekend 2026
October 9-11, 2026, Manchester (UK) and online
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The Community Weekend is for community members and professionals. The event includes presentations, community workshops, discussion groups, professional roundtable discussions and children’s activities.
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To attend remotely click here. Find the programme here.
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9th EPNS Research Meeting 2026
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October 16-17, Thessaloniki (Greece)
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The EPNS Research Meeting 2026 unites paediatric neurologists and researchers at all career stages to share ideas, present work, and spark collaborations across Europe and beyond.
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Please note that it is an EPNS member only event.
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EHDN Clinical Research Congress 2026
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October 22–24, 2026, Krakow (Poland)
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The congress will further strengthen the integration of the clinical development programme. As in previous years, the biennial meeting will feature the EHDN Business Meeting, a strong focus on ongoing and upcoming clinical trials, and presentations on cutting-edge scientific advances.
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All sessions will be open to clinicians, scientists, advocates, and family members impacted by Huntington’s disease. The networking and social programme will offer further opportunities to connect, collaborate, and engage across the Huntington’s disease community.
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Have a look at the preliminary programme . To register click here.
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ICAR 2026
November 10-13, 2026, Atlanta, Georgia (USA)
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ICAR 2026 will take place at the Renaissance Atlanta Waverly Hotel & Convention Center in Atlanta, Georgia, U.S. Please save the date for November 10-13, 2026.
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ICAR 2026 will be the place to share the latest ataxia research, including updates on Friedreich's ataxia and SCAs 1, 2, 3, 6, 7, and more. Attendees will hear developments in novel treatment approaches, clinical trial results, and scientific debates from leading ataxia researchers. There will also be the opportunity to network with academic and industry leaders. Special sessions and events are planned for junior researchers.
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9th RE(ACT) Congress
March 10-12, 2027, Budapest, Hungary
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Since its launch in 2012, RE(ACT) has promoted scientific exchange and encouraged collaboration in rare and orphan diseases. Working with stakeholders in the rare disease community, RE(ACT) demonstrates a shared commitment to overcoming challenges through collective effort, open collaboration, and knowledge sharing.
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The Congress brings together international leaders, renowned experts, and emerging talents from across disciplines to share breakthrough results, challenge ideas, and help shape the research and policy landscape that will accelerate progress in rare diseases.
To register click here.
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17th European Paediatric Neurology Society Congress
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April 06-10, 2027, Barcelona, Spain
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Registration is now open for the 2027 EPNS Congress, taking place on the 6-10 April 2027 in Barcelona, Spain. The congress brings together paediatric neurologists and allied professionals from across Europe and beyond for a comprehensive programme of scientific sessions, workshops, and networking opportunities covering the latest developments in paediatric neurology.
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13th Congress of the European Academy of Neurology
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June 12-15, 2026, Gothenburg, Sweden
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EAN 2027 will be about exploring the frontiers of treatment in neurology with the Overarching Theme Transforming Neurology: Embracing Every Brain. Where once treatment options for many neurological disorders were limited to supportive care, advances in neuroscience have driven our discipline forward into an era of expanding therapeutic possibilities. Innovations in genetics, immunology, neuroprotection, and precision medicine look set to lead the way to increasing progress in the shape of disease-modifying therapies personalised interventions, and integrated digital health approaches. This exciting realm of discovery and improvement in neurological care will form the basis for a selection of invited lectures and sessions at the congress, including one Symposium and two Focused Workshops.
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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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