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Content
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Disease Knowledge
ERN-RND Webinars
Cross-border Health Care
ERN Guideline Programme
Participation Calls
JARDIN Website and Newsletter
Upcoming Events
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we have been busy during summer and did finish 4 more translations for the patient journey Multiple System Atrophy - it is now available in German, French, Spanish and Polish!
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Also in this issue: a new ERN handbook (#13) on patient's involvement in the development of care guidelines, an open online course on innovative therapies and personalized medicine as well as an invitation to parents and care-givers to participate in two surveys on GNAO1.
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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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DISEASE KNOWLEDGE
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PATIENT JOURNEY: 4 new translations for MSA
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After having introduced our patient journey for Multiple System Atrophy (MSA) in last April, we now can present 4 more translations: German, French, Spanish and Polish!
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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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NEW 10.09.2024, 3-4 pm CEST | ‘Family Experiences with Huntington's Disease: Insights and Comparisons with other Neurological and Neuropsychiatric Disorders’ by Siri Kjølaas, Oslo University Hospital, Centre for rare disorders, Oslo, Norway SIGN UP here.
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12.09.2024, 4-5 pm CEST | ‘Therapies for Inherited Optic Neuropathies – an Update’ by Patrick Yu-Wai-Man, Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, and MRC Mitochondrial Biology Unit, University of Cambridge, UK. SIGN UP here.
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17.09.2024, 3-4 pm CEST | ‘The role of dopamine in the pathophysiology of the Allan-Herndon-Dudley syndrome/MCT8 deficiency’ by Nina Wilpert, Charité, Berlin, Germany. SIGN UP here.
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24.09.2024, 3-4 pm CEST | ‘Clinical Neurophysiology in Dystonia’ by Anke Snijders, Radboud University Medical Center, Netherlands. SIGN UP here
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03.10.2024, 4-5 pm CEST | ‘Presentation of the New Guidelines on ALS management’ by Philip Van Damme, UZ Leuven, Belgium. SIGN UP here
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10.10.2024, 4-5 pm CEST | ‘Update on ALS Approved Therapies’ by Andrea Calvo, AOU Torino, Italy. SIGN UP here
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17.10.2024, 4-5 pm CEST | ‘Management of Relationships and Sexuality in ALS Patients’ by Rachael Marsden, Oxford University Hospitals, UK. SIGN UP here.
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22.10.2024, 3-4 pm CEST | ‘Neurogeriatric Aspects and Neurological Aspects in Palliative Care of MSA, PSP and Advanced PD’ by Martin Klietz, Hannover Medical School, Germany. SIGN UP here
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24.10.2024, 4-5 pm CEST | ‘Novel Treatments in Hereditary Neuropathies’ by Peric Stojan, Department for Neuromuscular Disorders of the Neurology Clinic, University Clinical Center of Serbia. SIGN UP here
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05.11.2024, 3-4 pm CET | ‘Diagnostic Approach to Childhood-onset Chorea’ by Juan Darío Ortigoza-Escobar, Hospital Sant Joan de Déu, Barcelona, Spain. SIGN UP here
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14.11.2024, 4-5 pm CET | ‘DBS in Dystonia - the Network Perspective’ by Juho Joutsa, Turku University Hospital. SIGN UP here
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19.11.2024, 3-4 pm CET | ‘Autonomic Dysfunction in Movement Disorders’ by Pietro Guaraldi, Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy. SIGN UP here
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26.11.2024, 3-4 pm CET | ‘Differential Diagnosis aside from Neuroimaging for non-Leukodystrophy White Matter diseases’ by Nicole Wolf, Amsterdam Leukodystrophy Center, VUMC, Netherlands. SIGN UP here
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ERICA Webinars for clinical studies
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To stimulate the development of inter-ERN clinical trials on diseases that overarch different ERNs, ERICA webinars are sheduled to inform ERNs about specific aspects of clinical trial research. Check the available webinars here
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Massive open online course on Innovative Therapies and Personalized Medicine for Rare Diseases
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The course's objectives are to:
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- Introduce the latest therapeutic treatments developed through medical research, such as gene therapy, protein-based treatments, regenerative medicine, cell therapy, and tissue engineering, and their potential applications in the field of rare diseases and discuss how these treatments offer unprecedented opportunities to treat, modify, reverse, or even cure diseases that were previously deemed incurable.
- Define personalized medicine and explain how it differs from the traditional "one size fits all" approach.
- Discuss the current real-world challenges in developing personalized treatments and ways to overcome them.
The access to the content is free for the first 5 weeks after the enrollment.
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This course is designed for anyone interested in knowing how recent advances in the medical research field can impact the treatment of rare disorders.
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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:
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Thursday, 17/10/2024, 4 – 5 PM CEST (Amsterdam/Berlin/Rome)
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You are a physician in Europe and would like to receive DBS recommendations for one of your dystonia patients? Case submission for next appointment (17/10/2024) is possible until 30/09/2024.Please contact us.
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ERN Guideline Programme
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ERN Guideline programme: Handbook #13
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The 13th handbook of the programme is entitled Patients’ involvement in the development of CPGs and CDSTs on rare, low-prevalence and complex diseases: a guide for the chair and members of GDGs.
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The handbook focuses on the incorporation of the patient perspective into the development of clinical practice guidelines. This handbook provides comprehensive strategies and methodologies for engaging patients throughout the guideline development process, ensuring their insights and experiences are central to creating effective and practical clinical recommendations. We believe this handbook will be an invaluable resource for all stakeholders, emphasizing the importance of patient-centered care. We are eager to share it with you. Please feel free to disseminate this handbook among clinicians, ERNs members, patient organizations or any person of the rare disease community that may be interested in it.
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PARTICIPATION CALL
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We invite all parents, families and care-givers to participate in two studies:
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The surveys are available in English, Spanish, Italian, French, and German.
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Please complete and submit the survey questions by September 15, 2024.
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JARDIN Website and Newsletter
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JARDIN has now a website: www.jardin-ern.eu. And also a newsletter: The newsletter will not only provide information from the recent past, but also future plans including timelines.
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Subscribe to the newsletter here.
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UPCOMING EVENTS
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ERICA 4th General Assembly & ERN Research Conference
11- 13 December, 2024, in Udine, Italy
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The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity. ERICA Conference serves as a great opportunity to ‘meet and greet’ the active ERN research community, to present the research projects involving ERNs and to discuss the future of the ERN related Research
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International Congress for Ataxia Research (ICAR) 2024
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November 12–15 in London at the Leonardo Royal Hotel London Tower Bridge
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There are just two months left until abstract submissions close for ICAR 2024! Use the instructions below to submit your abstract for consideration. Find the congress agenda here.
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Book your hotel room now to avoid disappointment! Registration is now open, and hotel rooms are available for ICAR attendees using the group code. On Wednesday, September 11, 2024, these rooms return to general public sale.
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International Congress of Parkinson's Disease and Movement Disorders 2024
September 27 - October 1, Philadelphia, PA, USA
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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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16th European Paediatric Neurology Society Congress
8-12 July 2025, 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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Abstract submission will open in September. 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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