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We also feel honoured that EFNA invited Holm to be a panelist in a meeting with the MEP Interest Group Brain Health and Neurological Conditions on February 19 - join us remotely and register till February 17.
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The 3rd big news: more than 500 people have registered for our Winter School on "Challenges of Treating Rare Neurological Diseases" (12-14 March, online) - don't miss out and register!
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And there is even more: We have now officially started the dissemination of our patient journeys with Huntington's Disease - accompanied by a personal experience video.
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Enjoy further readings on important publications, new care standards, meetings and relevant calls.
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And last but not least #SocialMediaNews: We are now on BlueSky - follow us there!
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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
National Workshop (France)
Participation Calls
Upcoming Events
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ABOUT US
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Our coordinator Holm Graessner is now commissioner for the freshly launched Rare Diseases International Lancet Commission on Rare Diseases (RDI-LCRD)! We feel really honoured that among the 27 commissioners from all over the world he is the only one coming from an ERN.
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The initiative is dedicated to generating evidence- and equity-informed recommendations that are implementable and impactful across all countries to dramatically improve the lives of PLWRD. The RDI-LCRD brings together 27 Commissioners who represent countries from around the world and bring diverse perspectives (gender, lived experience) and expertise (ethics, clinical care, research, biostatistics, economics, regulatory, technology, innovation) from a variety of healthcare systems.
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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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12 March 2025 I Disease-Modifying Therapies
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Treatment of Metachromatic Leukodystrophies
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IRCCS San Raffaele Scientific Institute, Milan, Italy
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Treatment of Aromatic l-amino Acid Decarboxylase (AADC) Deficiency
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University Children's Hospital Heidelberg, Germany
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Leriglitazone Trial in Adrenoleukodystrophy
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Caroline Sevin,
Fanny Mochel
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Kremlin-Bicêtre University Hospital, La Pitié-Salpêtrière Hospital, Paris, France
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Disease-modifying Treatment Approaches/Trials in Huntington’s Disease (HD)
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Bernhard Landwehrmeyer
University Hospital Ulm,
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Treatment of Nano-rare Neurological Diseases
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Marlen Laufer
Leiden University Medical Center, The Netherlands
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13 March 2025 I Movement Disorders
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Introduction – Systematics of Movement Disorders Symptoms
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Radboudumc, Nijmegen,
The Netherlands
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Amsterdam UMC, The Netherlands
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University Hospital Schleswig-Holstein, Germany
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Treatment of Ataxia -
Genetics Based
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Leiden University, The Netherlands
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Treatment of Ataxia -
Rehabilitation Based
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IRCCS Eugenio Medea, Institute for Rehabilitation Medicine, Italy
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14 March 2025 I Non-Neurological Disease Aspects and Cases
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Introduction – Systematics of Non-neurological Aspects
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Radboudumc, Nijmegen,
The Netherlands
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Speech Treatment in Ataxias
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University of Melbourne,
Melbourne, Australia
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Cognitive and Psychiatric Treatment in Huntington’s Disease
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Maastricht University Medical Center, The Netherlands
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FOLLOW US ON BLUESKY
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BlueSky looks and functions pretty much like twitter - have you noticed? This is because it was conceptualized by former Twitter CEO Jack Dorsey in 2019 and developed in parallel with twitter. So moving from X to BlueSky is very easy, as everything is familiar - and it's even in the same blue colour as twitter was!
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So: Try it out and follow us to BlueSky. We hope to see you there soon!
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RARE DISEASE DAY EVENTS
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RARE DISEASE DAY is coming up and we are participating in 2 events!
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19.02.2025, 10-12 CET | ‘Shaping the Future: Policy Responses to Rare Neurological Challenges’, meeting with the MEP Interest Group Brain Health and Neurological Conditions, Brussels and online. SIGN UP for online participation till February 17, agenda.
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Our coordinator Holm Graessner will be attending the panel "Does Current Policy Meet the Needs of the Rare Neurology Community?" at 10:25 CET. The event is organised by the European Federation of Neurological Associations (EFNA) - thank you for the invitation!
IN GERMAN
28.02.2025, 17-19:40 CET | ‘Online-Fachtag „Seltene Erkrankungen im ärztlichen Alltag – selten oder funktionell?“’, Zentrum für Seltene Erkrankungen, Tübingen. SIGN UP for online participation. Find the programme here.
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Rare Disease Day Events from Other Organizers
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28.02.2025, 9-17 CET | ‘Rare Diseases in the Evolving Maltese Society" Conference, by Ministry of Health and Active Ageing (Malta), the National Alliance for Rare Diseases Support - Malta and the University of Malta, in-person and online. More information here.
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1) Solve-RD: The Worth of Reanalysis
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Within the Solve-RD project, over 300 experts from different European countries and Canada re-analysed genome data from undiagnosed 6447 patients. They were able to diagnose 506 patients and their families. For 15% of the patients, there are leads for actionability, in some including treatment; in other cases, the diagnosis provides clarity for the patients and their families (press release).
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Solve-RD and ERN-RND coordinator Holm Graessner is giving some insights into the project and talks about future steps in our video interview:
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2) NGS: European Quality Assessment for ERN-RND Centers
Why is a quality assessment on European level important for next generation sequencing (NGS)? What needs to be improved and what’s the benefit of having a network of expert centers like ERN-RND to work with?
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Ales Maver, clinical laboratory scientist at the University Medical Center in Ljubljana, talks about the insights and outcomes of the quality assessment for NGS that was done within the ERN-RND network 2024 in this video:
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Learn more in the paper: Maver, A., Lohmann, K., Borovečki, F. et al. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. Eur J Hum Genet 32, 1014–1021 (2024). https://doi.org/10.1038/s41431-024-01639-2
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DISEASE KNOWLEDGE
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In order to reach as many patients, clinicians and carers as possible we are systematically translating our patient journeys into different languages.
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The patient journey for Huntington's Disease is now available in 15 languages, so that we are starting our official patient journey dissemination with this disease - with the other disease groups to follow soon.
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Our ePAG Astri Arnesen is sharing her experience with doctors in the past and shows why a patient journey for Huntington's Disease is needed in this short video - please feel free to share (LinkedIn, Facebook, BlueSky):
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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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06.02.2025, 4-5 pm CET | ‘Diagnosis and Treatment of Nodopathies’ by Luis Querol Gutiérrez,Hospital de la Santa Creu i Sant Pau – Barcelona, Spain. SIGN UP here. (EURO-NMD)
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13.02.2025, 4-5 pm CET | ‘Multifocal Motor Neuropathy (MMN): Diagnosis, Treatment and Update on Biomarkers’ by Thomas Harbo, Aarhus University, Denmark, Emilien Delmont, AP-HM Hôpital de la Timone, Marseille, France. SIGN UP here. (EURO-NMD)
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20.02.2025, 4-5 pm CET | ‘Electrodiagnostic Patterns in Immune-mediated Neuropathies’ by Peter Van den Bergh, Cliniques universitaires Saint-Luc, Brussels, Belgium. SIGN UP here. (EURO-NMD)
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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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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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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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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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NATIONAL WORKSHOP
ON CROSS-BORDER HEALTHCARE (FRANCE)
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The registration for the next national workshop on the Cross-Border Healthcare Directive by the European Commission is now open. It is hosted by France in Strasbourg on 27 February 2025 within the premises of the European Parliament and will be held in French.
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PARTICIPATION CALLS
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ERDERA Joint Transnational Call (JTC) 2025 invites innovative research proposals focusing on “Pre-clinical therapy studies for rare diseases using small molecules and biologicals – development and validation.”
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This call aims to foster international collaborations to advance therapeutic solutions for rare diseases, benefiting millions of patients worldwide.
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Projects should address at least two of the following:
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- Development of novel therapies in a pre-clinical setting.
- Creation and validation of predictive and pharmacodynamic biomarkers.
- Replication of pre-clinical findings to enhance reliability.
- Pre-clinical proof-of-concept studies for therapy readiness.
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Submission deadline February 13. Find more information here.
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Call for Collaborative Genetic Research on Rare and Complex Epilepsies
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The main aim of this initiative is to recruit cohorts of patients carrying rare variants in genes without a well-defined phenotypic spectrum, where single centre studies would not yield significant series.
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EpiCARE can facilitate this type of studies by connecting several centers across Europe involved in the study of genetic epilepsies. Participation is not limited to EpiCARE members, it’s open to everyone.
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For more information click here.
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UPCOMING EVENTS
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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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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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