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The EURO-NMD CPMS Days return this autumn with four multidisciplinary case discussion sessions dedicated to key neuromuscular disease areas: - 28 September – Genetics of Neuromuscular Diseases
- 12 October – Motor Neuron Diseases
- 17 November – Neuromuscular Pathology
- 16 December – Muscle Diseases
These live sessions bring together clinicians and experts to discuss complex cases through the Clinical Patient Management System (CPMS) and provide focused multidisciplinary feedback. Clinicians presenting a case during a CPMS Day are eligible for a €400 reimbursement under the EURO-NMD reimbursement scheme. An active CPMS account is required to participate and submit a case.
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EURO-NMD is pleased to introduce three new Patient Journeys dedicated to: 🔹 Amyotrophic Lateral Sclerosis (ALS)
🔹 Myositis
🔹 Mitochondrial Diseases
Developed in collaboration with healthcare professionals and patient representatives, these Patient Journeys provide a clear overview of the different stages of care, from diagnosis and treatment to long-term follow-up and support. They aim to help patients and families better understand what to expect throughout their care pathway, while also supporting healthcare professionals in delivering coordinated, patient-centred care. Explore our new Patient Journeys and discover these practical resources designed to support the neuromuscular community.
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EURO-NMD is pleased to continue its collaboration with the European Molecular Genetics Quality Network (EMQN) and will cover the registration fees for up to 30 genetic laboratories affiliated with EURO-NMD Healthcare Providers participating in the 2027 Neuromuscular Disorders External Quality Assessment (EQA) Scheme. The scheme includes DMD/BMD Targeted Testing, NMD Gene Panel Testing, or a combination of both. Registration for the 2027 scheme is now open, with a deadline of 30 November 2026. Interested laboratories should: - complete the EURO-NMD Expression of Interest form: https://tally.so/r/GxjQRj
- register through the EMQN website by 30 November 2026
Please note that the fee waiver can only be applied to laboratories that have submitted their EMQN ID to EURO-NMD through the dedicated form. For further information, please contact Carla D’Angelo at c.dangelo@ern-euro-nmd.eu.
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As a reminder, the CHKB-Myo Survey is an international multicentre retrospective study aiming to better characterise the clinical spectrum, disease progression and potential genotype–phenotype correlations of CHKB-related myopathy, an ultra-rare neuromuscular disease. The deadline to contribute to the study has been extended. The study includes patients with molecularly confirmed CHKB-related myopathy, covering both paediatric and late-onset presentations. Participating centres are invited to contribute existing clinical data through a standardised Case Report Form (CRF), with no additional visits or investigations required. If you have eligible CHKB cases in your centre and have not yet completed the questionnaire, we encourage you to contribute.
Read the Summary here!
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To mark World Mitochondrial Disease Awareness Month, ERN EURO-NMD is pleased to present a special series of four webinars dedicated to mitochondrial diseases. Throughout September, leading experts in the field will share their knowledge and perspectives on key topics related to the diagnosis, management and understanding of mitochondrial disorders. The webinars will take place every Thursday at 16:00 CEST and are open to healthcare professionals, researchers, students, patient representatives and anyone interested in mitochondrial diseases.
ALL REPLAYS ARE NOW AVAILABLE!
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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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An upcoming ERDERA Ethics & Regulatory webinar will explore the key regulatory requirements for advanced therapy medicinal product (ATMP) research, with particular attention to genome editing and paediatric research. The session will provide practical guidance to support responsible research and smoother clinical translation in the rare disease field. Presenter: Viviana Giannuzzi, Fondazione Gianni Benzi
30 September 2026 | 13:00 CET | Online | English
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Saturday, 10 October 2026 | 08:30–13:30 CET Our partner ERN-RND is organising a scientific symposium on the role of registries in rare neurological diseases. The programme will explore how patient registries contribute to natural history research, clinical trial readiness and evidence generation. Experts, healthcare professionals, regulators and patient representatives will discuss: - Frameworks for rare neurological disease registries
- Examples of registry initiatives within ERN-RND
- Patient and family expectations
- Regulatory and methodological considerations
- The use of registry data in clinical trials and post-authorisation studies
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A new paper published in The Lancet Regional Health – Europe highlights the important role of European Reference Networks (ERNs) in strengthening crisis preparedness and protecting people living with rare and complex diseases during health emergencies. Drawing on lessons learned from the COVID-19 pandemic and the war in Ukraine, the publication examines the challenges faced by rare disease communities during major crises and proposes a 10-point crisis preparedness plan specifically designed to ensure continuity of care for these vulnerable populations. The recommendations address key areas including cross-border coordination, access to highly specialised care, digital infrastructure, patient education, continuity of medicines and medical devices, and stronger integration with national emergency services and non-governmental organisations. The paper also highlights the added value of ERNs in responding to difficult circumstances and calls for their role to be more formally integrated into European health emergency preparedness and response mechanisms.
Journal: The Lancet Regional Health – Europe Publication details: Volume 69, Article 101801 (2026) Publication date: 8 August 2026 Article type: Open Access DOI: https://doi.org/10.1016/j.lanepe.2026.101801
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A new paper published in the Journal of Neuromuscular Diseases highlights how the Solve-RD collaborative research framework has helped improve the diagnosis of patients with rare neuromuscular and neurological diseases who previously remained without a molecular diagnosis. Funded under the EU Horizon 2020 programme, Solve-RD brought together clinical experts, geneticists and bioinformaticians from across Europe to systematically reanalyse existing genomic data and apply advanced multi-omics technologies, including long-read genome sequencing, RNA sequencing and optical genome mapping. Among 3,788 previously undiagnosed families with rare neurological or neuromuscular diseases, continued reanalysis and additional diagnostic approaches ultimately provided a molecular diagnosis for 575 families, corresponding to an overall diagnostic yield of 15.2%. The study demonstrates the value of combining expert collaboration, systematic data reanalysis, data sharing and harmonisation, and innovative genomic technologies to solve complex rare disease cases and identify new pathogenic variants and disease mechanisms. Journal: Journal of Neuromuscular Diseases Publication date: 15 July 2026 Article type: Review article – Open Access Publication: OnlineFirst DOI: https://doi.org/10.1177/22143602261460689
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A new paper published in Frontiers in Public Health highlights the important role of European Reference Networks (ERNs) in supporting the referral and care of infants with positive genetic newborn screening results. Developed within the Screen4Care (S4C) project, the publication proposes an operational framework to help ensure that infants identified through genetic newborn screening are referred to the most appropriate ERN and healthcare provider, supporting timely, specialised and equitable access to care across Europe. Screen4Care aims to screen 18,000 newborns using the 245-gene TREAT panel. EURO-NMD is pleased to have contributed to this collaborative work alongside other ERNs and Screen4Care partners. Special thanks to Fernanda Fortunato for her extensive work and commitment to the development of this publication. Journal: Frontiers in Public Health Publication details: Volume 14, Article 1822461 (2026). Publication date: 10 June 2026. Article type: Original Research article (Open Access). DOI: https://doi.org/10.3389/fpubh.2026.1822461
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Registration is now open for the first module of the ERN-RND Postgraduate Curriculum, dedicated to Cerebellar Ataxias and Hereditary Spastic Paraplegias (HSP). This UEMS-approved postgraduate training programme, offered free of charge, provides a structured pathway to strengthen clinical expertise in rare neurological diseases through online learning, supervised clinical training and competency assessment. Successful completion leads to the European Certificate in Rare Neurological Diseases (ECRND) within the UEMS framework. The programme is open to doctors in specialist training or already board-certified in Neurology, Child Neurology, Medical Genetics or another relevant specialty.
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Applications are now open for the 2027 EURORDIS Open Academy x ERDERA Schools, taking place in Barcelona from 7–10 June 2027. The programme brings together patient advocates and early-career researchers for intensive, face-to-face training focused on rare disease research, medicines development and scientific innovation. Participants can apply to one of two training tracks: - Medicines Research & Development (MRD) – covering the pathway from research to medicine development.
- Scientific Innovation & Translational Research (SITR) – focusing on how scientific discoveries can be translated into meaningful impact for patients.
Now entering its third year within ERDERA – the European Rare Diseases Research Alliance, the programme combines online learning, webinars and in-person training, with contributions from experts across research, regulatory agencies, industry and the patient community. The Schools aim to strengthen participants’ knowledge, skills and confidence to engage as equal partners in rare disease research, clinical development and scientific decision-making. Participation is free of charge for patient advocates thanks to ERDERA funding. Application deadline: 16 October 2026
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Since 2008, the EPNS Research Meeting has brought together leaders, researchers, and young fellows in Paediatric Neurology to present work, exchange ideas, and foster networking and collaborative projects across Europe and beyond. Who can attend?
Child neurologist researchers at all career stages – senior colleagues, junior scientists, and PhD students – are welcome. Important: All participants must be EPNS members with a 2026 membership. Reduced fees are available for trainees, neuroscientists, and PhD students. For membership info, contact info@epns.info or visit EPNS Membership Fees. Don’t miss this opportunity to showcase your research and connect with the paediatric neurology community!
Dates: 16 – 17 Oct 2026 Location: Greece
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An in-person teaching course on Metabolic and Genetic Causes of Rhabdomyolysis will take place in France from 19–21 November 2026. The course will focus on the main triggers, diagnostic approaches and genetic causes of rhabdomyolysis, including how to identify patients who may require further genetic investigation. Topics will also include emergency management, prevention of recurrence and return-to-sport recommendations. Candidates are encouraged to apply with a case abstract of up to one A4 page. 19–21 November 2026 | Paris, France
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The EURORDIS Black Pearl Awards will return on 15 February 2027, bringing together the rare disease community in Brussels and online to celebrate outstanding achievements, dedication and collaboration. Organised by EURORDIS – Rare Diseases Europe around Rare Disease Day, the Awards recognise patient advocates, organisations, healthcare professionals, researchers, policymakers and others making a meaningful contribution to the rare disease community. The event will once again be held in a hybrid format, with participation possible in Brussels or online. ERN EURO-NMD is pleased to support the 2027 edition as an Outreach Partner. 15 February 2027 | Brussels & Online
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The Radboudumc FAIR Data Stewards team has been named one of the winners of the 2026 Radboud Team Science Awards, recognising outstanding teamwork, diversity and scientific impact. Led by Prof. Peter-Bram ’t Hoen, the multidisciplinary team works to make research data more Findable, Accessible, Interoperable and Reusable (FAIR), a particularly important goal in rare diseases, where data is often fragmented across countries and registries. The team is also leading interoperability efforts within the EURO-NMD Registry project.
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