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Content
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About us
Disease Knowledge
ERN-RND Webinars
Cross-border Health Care
Serious Game for HCPs
Upcoming Events
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our annual meeting is coming up on October 10 and our scientific symposium "Translation and Innovation" on the first day (12 CEST) is open to all! So join us online via zoom (agenda)!
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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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ABOUT US
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ERN-RND Patient Journeys on EURORDIS podcast
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Some of you have already been participating in helping us translating our patient journeys into different languages (big thanks again!). But have you ever wondered how patient journeys are developed and disseminated? From the first draft made by a patient advocate over surveys and evaluations by clinicians up to translations to make them available to as many people as possible – a patient journey is a lot of work.
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Sophie Ripp, ERN-RND project manager and Lori Renna Linton, coordinator of our patient advocate group, talked about all those steps in the EURORDIS podcast ERNs on Air (ep. 6).
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NEW PUBLICATIONS
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New study on MLD newborn screening
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The combination of newborn screening, care pathway and respective therapies led to a major breakthrough for rare diseases in this study: "Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy".
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The study was conducted in the German expert centers Hannover and Tübigen over the period of nearly 2 years. By using a three-tiered screening strategy 3 of over 100.000 newborn infants were screened positive for MLD and received treatment in accordance with the proposed care pathway.
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Study on Rating Scale Usage for Paediatric Movement Disorders (MD)
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This exploratory study evaluates rating scale usage by 25 ERN-RND experts from 10 different countries for paediatric MD, thereby categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients.The aim is to propose a preliminary framework for consistent application.
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Study on Diagnosis, Treatment, and Management of NKX2-1-related Disorders
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This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists. It involved 23 experts from 13 EU countries with experience in evaluating hyperkinetic patients with NKX2-1-RD. It highlights the need for a clinical practice guideline for the management of NKX2-1-RD to ensure that patients across the EU receive consistent and appropriate care.
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Systematic review of thyroid function in NKX2-1-related disorders
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Out of 1012 potentially relevant studies, 46 were included, for a total of 113 patients. This review highlights the need for standardized protocols in endocrine screening for NKX2-1-RD, emphasizing the importance of consistent methodology and hormone threshold levels. Variability in NKX2-1 gene variants further complicates diagnostic efforts. Future research should concentrate on optimizing early screening protocols and diagnostic strategies.
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Academic Assistant (80-100%)
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The Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen is looking for an academic assistant on a full-time or part-time basis (80-100 %) for a limited period of 2 years with the option to extend.
You will strengthen the team in the ERDERA and 1M1M projects. These projects focus on the development of mutation-specific, genetic therapies for (ultra-)rare diseases. A platform for individualised therapy development is to be established to ensure the safe, standardised and timely production of the required antisense oligonucleotides (ASOs).
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Find the detailed job description here.
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DISEASE KNOWLEDGE
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UPDATED Diagnostic Flowchart for Ataxias
The diagnostic flowchart for ataxias has been updated, espeacially in regards to symptoms and genetic mutations. Find the updated version here.
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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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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 (EURO-NMD).
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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 (EURO-NMD).
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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 (EURO-NMD).
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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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21.11.2024, 4-5 pm CET | ‘Muscle Pathology of Storage Diseases with Focus on Plyglucosan and Lipid Storage Myopathies’ by Anders Oldfors, University of Gothenburg, Sweden, Italy. SIGN UP here (EURO-NMD).
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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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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 04/10/2024.Please contact us.
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Serious Game
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Serious Game on Announcing a Rare Disease Diagnosis
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ERN-EYE has launched a serious game about best practices when announcing a rare disease diagnosis, called ADhoc.
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You've got 1 hour to master 15 scenes, where you can practice your empathy: "Facing a surprised or disoriented patient, calming a father's anger, or managing unruly siblings, all while delivering a complex diagnosis " - the game shows good examples on how to deal with situations like these. When it comes to finding solutions, however, you should bear in mind that there is no one-size-fits-all approach.
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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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Abstract submission extended till 15th October.
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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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Deadline for submissions is the 15th January 2025. 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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