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the last newsletter of this year starts with great news: Our coordinator Holm Graessner received the new established and therefore 1st Martha and Wilfried Award for Rare Diseases. Apart from that we also have two calls for participation: a NKX2-1 related disorders registry and a questionnaire on primary mitochondrial disorders.
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We are already looking forward to many exciting and inspiring events in the coming year. For now, however, we wish you a wonderful pre-Christmas period and a happy holiday season.
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The ERN-RND Coordination team
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Content
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ABOUT US
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Holm Graessner, coordinator of ERN-RND, receives the 1st Martha and Wilfried Ensigner Award for Rare Diseases
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We are happy to announce that our coordinator Holm Graessner received the 1st Martha and Wilfried Ensinger Award for Rare Diseases. The award, which is endowed with 5.000€, honors the exceptional work and commitment in the field of rare diseases and will be rewarded every 2 years from now on.
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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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POSTPONED Please note that that the webinar about ‘Diagnostic workup for genito-urinary dysfunctions in atypical parkisonism’ by Pietro Guaraldi, sheduled for 13.12.2023, has to be postponed. We will inform you about the new date as soon as possible.
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16.01.2024, 3-4 pm CET | ‘Dystonia - In whom, when and how genetic testing should be applied?’ by Sylvia Bösch, Medical University Innsbruck, Austria. SIGN UP here
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23.01.2024, 3-4 pm CET | ‘Autoimmune chorea’ by Jeroen Kerstens, Antwerp University Hospital, Belgium. SIGN UP here
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06.02.2024, 3-4 pm CET | ‘Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities’ by Sarah Tabrizi, UCL Queen Square Institute of Neurology, London, UK. SIGN UP here
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20.02.2024, 3-4 pm CET | ‘Newborn screening in leukodystrophies’ by Lucia Laugwitz, University Hospital Tübingen, Germany. SIGN UP here
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27.02.2024, 3-4 pm CET | ‘Neuropsychological assessment in primary progressive aphasia – recommendations and pitfalls in clinical practice’ by Lize Jiskoot, Rotterdam University Medical Center, Netherlands. SIGN UP here
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12.03.2024, 3-4 pm CET | ‘The spectrum of genetic synucleinopathies’ by Leonidas Stefanis, University of Athens Medical School, Athens, Greece. SIGN UP here
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ERICA Webinars for clinical studies, have a look here
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MLD 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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CALLS FOR PARTICIPATION
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NKX2-1-Related Disorders Registry
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We invite you to join a prospective multicenter study focusing on the clinical characteristics of patients with NKX2-1-related diseases through the establishment of an international patient registry.
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Eligibility: Open to any patient with pathogenic or likely-pathogenic variants in the NKX2-1 gene.
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Main objective
To define the symptoms of NKX2-1-related diseases in an international group of patients by collecting and analyzing clinical and genetic data.
Secondary objectives
1. Identify symptoms and conditions associated with the disease, which can guide early diagnosis and treatment.
2. Explore the different symptoms of the disease, including the identification of new symptoms and clinical subtypes and the analysis of neuroimaging data.
3. Create an international registry of patients with NKX2-1-related diseases, which allows the identification of new cohorts for future clinical and genetic studies.
4. Evaluate the quality of life and the impact of the disease on patients and their families through the use of validated tools for the evaluation of clinical and health results.
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All participating researchers will receive acknowledgement as co-authors in any publications stemming from this study.
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This study has obtained approval from the Institut de Recerca Sant Joan de Déu Ethics Committee (REC code: PIC-105-23). Investigators are advised to adhere to their respective institutions' policies regarding the sharing of de-identified information. If additional local Institutional Review Board (IRB) approval is necessary for data sharing, a copy of the IRB approval letter or protocol from Hospital Sant Joan de Déu can be provided.
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For those interested in participating, please reach out to Dr. Dario Ortigoza (juandario.ortigoza@sjd.es) and Dr. Laia Nou (laia.nou@sjd.es)
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QUESTIONNAIRE on Mitochondrial Disorders
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MetabERN Questionnaire on the Treatment of Primary Mitochondrial Disorders with Vitamins and Cofactors
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Primary mitochondrial disorders (PMD) continue to be without any curative or evidence-based therapies, but in many cases, clinicians use one or more vitamins or cofactors to support the patient's mitochondrial function/metabolism and thereby help to alleviate the patient's health complaints.
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In order to improve our understanding of which vitamins and cofactors clinicians use to support patients with PMD, the MetabERN’s Pyruvate metabolism mitochondrial oxidative phosphorylation disorders, Krebs cycle defects, disorders of thiamine transport and metabolism subnetwork [PM-MD (Mito)] has prepared a questionnaire.
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The aims of this survey are:
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1. to map the daily practice of vitamin and cofactor use among physicians treating children and adults affected by PMD
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2. to use information from the survey to begin to develop recommendations for the use of vitamins and cofactors to support patients affected by PMD
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The questionnaire is open to all PMD specialists from around the world until December 31, 2023. Answering takes 15-20 minutes. Please share this questionnaire with your colleagues in other centers/countries!
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UPCOMING EVENTS
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12th European Conference on Rare Diseases and Orphan Products (ECRD) 2024 15-16 May 2024, both online and in Brussels
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The registration for Europe's largest, patient-led, rare disease policy-shaping event is now open! This year's conference will focus on identifying the most critical priorities and areas of improvement. By bringing together stakeholders from across Europe, it aim to build a multi-stakeholder consensus on a comprehensive approach to rare disease policy that can provide a footprint for the next EU legislative cycle.
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The submission for poster abstracts is open till 23 February 2024.
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36th European Academy of Childhood Disability (EACD)
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29th May - 1 June 2024in Bruges, Belgium
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Under the meeting theme ‘Composing a new symphony’, we challenge the increasing innovative unaffordability and policy difficulties and will work towards new collaborations by embracing positive thinking, taking on responsibilities, and reshaping our plans to meet the needs of a changing world. And we invite you all to join us on this journey to contribute to a brighter future for ourselves and for generations to come!
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10th Congress of the European Academy of Neurology
29 June - 2 July, in Helsinki and online
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The overarching theme is "Neuromodulation: Advances and Opportunities in Neurological Diseases". The current state and future directions of neuromodulation will be addressed with relevant questions such as which techniques are avaialble as diagnostic tools or therapeutic intervention; how to precisely target specific cortical regions, deep brain structures and head nerves for therapeutic purposes; and how to advance neuromodulation into new areas of neurology such as chronic minimally conscious state or limb prosthesis.
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Deadline for abstract submission is 19 January 2024.
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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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