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today is World Health Day, this year focusing on maternal and newborn health. For this occassion we've asked our member Lucia Laugwitz to talk with us about newborn screening for Metachromatic Leukodystrophy (MLD), its effects and what is needed to implement MLD in the newborn screening - watch the whole video interview here.
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Today is also the last day to register for the EESC Conference Towards an EU Action Plan on Rare Diseases, which is coming up this week. We will be contributing with 2 talks: on Patient Registries and Data Sharing by our coordinator Holm Graessner and on Patient Journeys by our patient representative Lori Renna Linton - don't miss it!
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And last but not least, we have endorsed recommendations for the pharmacological treatment of behavioural manifestations in FTD as new care standard.
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#SocialMediaNews: As of April we have left X and are now on BlueSky, LinkedIn and Facebook - follow us there for more news on rare neurological diseases and ERN-RND.
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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
Publications
Upcoming Events
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ABOUT US
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EESC 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 (online participation possible).
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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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Contributions from ERN-RND
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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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The Importance of Newborn Screening for Metachromatic Leukodystrophy (MLD)
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MLD is a neurodegenerative disorder, that affects children at a very young age, leading to a premature death. In a pilot program (2021-2023) in which over 100,000 newborns were screened for metachromatic leukodystrophy, blood-spot samples were obtained for analysis and three newborns with MLD were identified, which made presymptomatic treatment possible.
"This gene therapy shows a high efficacy, enabling an almost normal cognitive and motor development for the children, if it is applied in the presymptomatic stage of the disease", says Lucia Laugwitz, MD, from the Paediatric Department at the University Hospital Tübingen. This success shows why it is important to implement MLD in the newborn screening.
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Following the publication of this German pilot study, Norway was the first country to implement NGS (Next Generation Sequencing) for MLD on a national level - with hopefully more countries to follow soon.
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Watch the video interview 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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NEW Care Standard for Pharmacotherapy of Behavioural Manifestations in FTD
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The study examined drug management decisions for several behavioural disturbances in patients with FTD by 21 experts across European expert centres affiliated with the European Reference Network for Rare Neurological Diseases (ERN-RND).
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The survey data can provide expert guidance that is helpful for healthcare professionals involved in the treatment of behavioural symptoms. Additionally, they offer insights that may inform prioritization and design of therapeutic studies, particularly for existing drugs targeting behavioural disturbances in FTD.
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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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TOMORROW 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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11.04.2025, 4-5 pm CEST | ‘Genetic Diagnosis of Neuromuscular Diseases’ by Marcella Neri (Azienda Ospedaliero – Universitaria di Ferrara, Italy), Arabela Acalinei (EAMDA, Romania), Madelon Kroneman (Spierziekten Nederland). SIGN UP here. (EURO-NMD)
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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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08.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 1: Genetic Diagnosis’ by Emiliano Giardina, University of Rome Tor Vergata, Italy. SIGN UP here. (EURO-NMD)
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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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15.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 2: International Clinical Care Guidelines’ by Teresinha Evangelista, Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France. SIGN UP here. (EURO-NMD)
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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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28.05.2025, 4-5 pm CEST | ‘FSHD webinar series – Episode 4: Clinical Trial Readiness’ by Nicol Voermans & Ria de Haas, Radboud University Nijmegen Medical Centre, the Netherlands. SIGN UP here. (EURO-NMD)
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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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23.04.2025, 5-6:30 pm CEST | ‘Cerebral Vasculitis – Diagnosis, Clinical Management and Complications’ by Johann Sellner, Sonja Hochmeister, Marialuisa Zedde. 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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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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Proposal on patient involvement in clinical practice guidelines
This proposal offers a framework to actively involving people living with rare diseases throughout the clinical practice guidelines’ development process, aiming to produce more inclusive and practical recommendations that better reflect real-world patient needs.
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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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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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To register click here. Find the agenda here.
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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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To register click here. 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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