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The 7th edition of the ERN EURO-NMD Annual Meeting is fast approaching, with 21 days to go! The event is being held in Paris in the Pitié-Salpêtrière Hospital.
This year's overarching themes are: Newborn screening & Gene therapy.
Due to high demand, the event is now fully booked and we have closed the registrations.
We look forward to welcoming you to this year's meeting.
📆 21 - 23 February 2024
📍 Pitié-Salpêtrière Hospital, Paris
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Dr. Maggi has well-known expertise in neuromuscular disorders, and he is the referral consultant neurologist for muscle diseases at the Fondazione IRCCS Istituto Neurologico Carlo Besta, leading a clinical and laboratory team contributing to clinical, diagnostic and research activities, including pharmacological clinical trials.
We are very grateful to have him co-chairing the Neuromuscular Junction Disease Working Group and look forward to working with him.
Welcome, Lorenzo!
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The 6th Neuromuscular Translational School organized by EURO-NMD and TREAT-NMD focuses on therapy development from bench to bedside with a focus on neuromuscular disorders.
The Translational Summer School contains lectures about the current state of the art of the management of acquired and genetic neuromuscular diseases, the different steps of drug development and the tools needed for this (outcome measures, biomarkers etc). It also stresses how patients should play a role in each of these steps and teaches how to communicate research to patients and the general public during interactive workshop sessions.
⚠️ APPLICATIONS WILL OPEN IN MARCH.⚠️
Stay tuned!
📆 9 - 12 July 2024
📍 Leiden, the Netherlands
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This survey will allow us to better identify the patient's symptom burden. This survey is only for adult patients (18 years and older) and must be completed by the patient only or the caregiver. Please note that the survey is anonymous, no sensitive data will be collected. We appreciate your collaboration in ensuring that as many patients as possible have the opportunity to participate. If you have any questions or require further information, please do not hesitate to reach out Prof. Michelangelo Mancuso (michelangelo.mancuso@unipi.it) and Manuela Lavorato (the project coordinator, manuelalavorato@gmail.com). Please share the survey link below. The survey must be completed no later than April 10th, 2024 (It will be available for 3 months starting from January 10th).
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Dear HCPs of EURO NMD, We are pleased to invite you to participate in the survey “Current screening and treatment to optimize bone strength in neuromuscular disorders: a survey among medical specialists”. This is initiated as preparation for the 274th ENMC workshop (January 2024). We were encouraged by patients involved in EURO-NMD to organize a workshop on this topic based on their experience of suboptimal bone health care and our recent review [Bouman K, Neuromuscul Dis. 2023;10(1):1-13]. I have invited three bone health specialists to co-organize this workshop: prof.dr. Leanne Ward, dr. Antimo Moretti and dr. David Weber. Background information on the topic is provided below.
You have been contacted by email twice. Thanks for your contribution if you have filled it out. If you have not done so, please take your chance to be involved in a survey on this important topic now! We would be delighted to receive a response of the majority o HCPs of EURO-NMD Nicol Voermans, neurologist on behalf of the ENMC workshop organizers
Radboud university medical center, Nijmegen, the Netherlands
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Mitochondrial Medicine - Therapeutic Development, the 8th meeting in this series will take place on 18-20 March 2024.
The conference will build new partnerships that harness our understanding of the disease mechanisms, accelerating the pace of effective treatments for mitochondrial diseases. This year’s programme will include discussions about recent discoveries on mitochondrial DNA (mtDNA) disorders to develop new therapeutic targets and the latest advances in gene editing and genomic technologies.
📍 Wellcome Genome Campus, Hinxton, Saffron Walden, United Kingdom |
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February 2024 Thursday, February 15th 2024 at 16:00 CET
"SMA genetics in the therapeutic and newborn screening era." delivered by Dr. Eduardo Fidel Tizzano (Director of the Department of Clinical and Molecular Genetics at the Vall d’Hebron)
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Thursday, February 29th 2024 at 16:00 CET (Postponed from January, Muscle month)
"Rhabdomyolysis" Delivered by Prof. Antonio Toscano (University of Messina, Italy)
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If you missed a webinar, don't panic! All our webinars are recorded and made available on our website. |
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6 February 2024, 3 - 4 pm CET
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities Delivered by Sarah Tabrizi (UCL Queen Square Institute of Neurology, London, UK)
20 February 2024, 3 - 4 pm CET
Newborn screening in leukodystrophies Delivered by Lucia Laugwitz ( University Hospital Tübingen, Germany)
27 February 2024, 3 - 4 pm CET
Neuropsychological assessment in primary progressive aphasia – recommendations and pitfalls in clinical practice
Delivered by Lize Jiskoot (Erasmus Medical Center Rotterdam, Netherlands)
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Muscular Dystrophy Canada (MDC) and the Neuromuscular Disease Network for Canada (NMD4C) are pleased to invite you to a webinar on therapies for Duchenne muscular dystrophy.
This webinar is primarily targeted at clinicians, academics, and trainees with an interest in neuromuscular disease.
Learning Objectives: - Understanding the muscle stem cell deficit in DMD.
- Development of small drugs that enhance muscle regeneration by mobilizing muscle stem cells.
- To review the benefits and challenges of classic glucocorticoid therapy (prednisone, deflazacort) for the treatment of DMD
- To discuss VBP15 (vamorolone), a novel “dissociative steroid” developed with the goal to separate the anti-inflammatory benefits of steroid therapy from the well-known adverse effects
- To summarize the results of clinical trials in ambulatory boys with DMD that highlight the impact of vamorolone on muscle, bone and endocrine outcomes
📆 February, 6th 2024 - 17:00 ET
Click here to register!
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SMA Europe takes great pride in inviting scientists and young researchers as well as clinicians and other healthcare professionals from all over the world to attend the 4th International Congress on Spinal Muscular Atrophy, from 14th to 16th March 2024 in Ghent, Belgium. SMA Europe is the European umbrella for national SMA patient organisations. One of its core activities is to foster patient-relevant research in the field of SMA, to communicate the value generated from research, and consequently to ensure future support for research within our community.
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The 2024 edition of the International Myotonic Dystrophy Consortium Meeting (IDMC-14) will be held in Nijmegen from 9-13 April 2024.
#Nijmegen is the oldest city in the Netherlands and one of the places where the disease-causing repeat expansion was identified in the nineties. OPTIMISTIC, the largest #myotonicdystrophy trial, was initiated and coordinated in Nijmegen.
The meeting will offer an excellent opportunity to learn, share, and network with all those currently active in the field of myotonic dystrophy: scientists, clinicians, patients, patient representatives, and professionals from the pharmaceutical industry.
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For the fifth time, the Joint Meeting of the Belgian-Dutch Neuromuscular Study Club and the Reference Center for Neuromuscular Diseases of the DGNN takes place in Kasteel Bloemendal Hotel, Vaals, The Netherlands. The meeting is designed to foster the interactions between clinicians, neuropathologists and basic researchers engaged in the study of neuromuscular diseases. As always, it is open to everyone interested in a smaller, highly interactive symposium. 📆 19-20 April, 2024
📍 Kasteel Bloemendal Hotel, Vaals, The Netherlands
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The 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD), for which EJP RD is a partner, will take place on 15-16 May 2024, both online and in Brussels! It will be held as an official event under the auspices of the Belgian EU Council Presidency. ECRD is the largest patient-led, rare disease policy-shaping event held in Europe, aimed at identifying key priorities to forge a unified approach for the next EU legislative cycle. Register now !
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The international congress dedicated to neuromuscular science, MYOLOGY 2024, will take place in PARIS on April 22th-25th, 2024. This 8th edition is expected to gather about 1,000 delegates from all over the world. In the wake of our past successful congress Myology 2022 in Nice, we look forward to welcoming even more participants in the capital city of France.
A few weeks before the Olympic Games, we will have more than ever the opportunity to highlight how our knowledge arising from neuromuscular diseases can lead to innovations also benefitting the general public. We will also have a global overview of the latest advances in muscle science with a specific focus on disease-modifying therapies and medical breakthroughs.
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Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.
Rare Disease Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels. |
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This online info session is open to all researchers and innovators at any career stage and from any field of research, especially young researchers. The aim is to inform the research community on how to participate in COST Actions or submit a COST Action proposal, the role and impact of the COST programme, and the benefits of the COST offer. Technical details
27 March 2024, 10:00-11:30 CET, Brussels/Paris/Madrid time zone
Registration via this page is required to receive the Zoom link to join the webinar. Please register at the bottom of this page. You will receive the link timely closer to the event date.
The capacity in Zoom is limited to the first 1000 attendees who join the webinar. Once the limit is reached, the livestreaming can be followed on COST’s YouTube channel. Please note that Q&A will only be possible via Zoom.
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Submission of comments on the Concept paper on the revision of the Guideline on the principles of regulatory acceptance of 3Rs (replacement, reduction, refinement) testing approaches is now open. This Guideline was adopted in 2016 with the aim to encourage stakeholders and authorities to initiate, support and accept development and use of 3Rs testing approaches to replace, reduce and refine in vivo animal studies for human and veterinary medicinal products. Since its implementation, scientific, technological and regulatory knowledge on 3R testing approaches, such as microphysiological systems, including organ-on-chip models, has significantly evolved. Consequently, there is a need for more specific guidance to assist in the development and potential regulatory use of these New Approach Methodologies. In addition, the most important 3Rs-related terms should be defined to act as the basis for the drafting of EMA documents in the field of New Approach Methodologies and to fully inform all involved stakeholders. This will be expanded upon in a new dedicated section in the guideline. Comments should be provided by 28 February 2024
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The latest IRDiRC paper, "Drug Repurposing for Rare: Progress and Opportunities for the Rare Disease Community" has been published in Frontiers in Medicine.
The paper is available here.
This open-access publication, reflecting the collaborative efforts of the IRDiRC Drug Repurposing Task Force and the IRDiRC Therapies Scientific Committee over the past 1.5 years, is a significant milestone in advancing drug repurposing for rare diseases.
The paper delves into key insights gained from analyzing cases of drug repurposing in small population conditions. Lessons learned include the importance of sharing clinical observations, early engagement with regulatory scientific advice, and fostering public-private collaboration.
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You will join the laboratory of Translational Research in Neuromuscular Diseases at the Institut de Recerca Sant Joan de Déu-Hospital Sant Joan de Déu Barcelona. You will lead a project with the overall aim of investigating the application of gene and base editing strategies using various CRISPR /Cas9 and RNA-based systems for the correction of mutations in collagen VI genes that result in a severe form of congenital muscular dystrophy.
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