The 8th ERN EURO-NMD Annual Meeting took place on March 5-7, 2025, at Essen University Hospital, Germany.
This year, we focused on two key themes: Newborn Screening and Transition. These critical topics guided our discussions, emphasizing the importance of early detection of neuromuscular diseases and the smooth transition of care from pediatric to adult services.
🔹 Newborn Screening – How can early detection change the lives of patients and families? We explored advances in screening techniques and early interventions.
🔹 Transition – Ensuring continuity of care is essential. We discussed best practices to support young patients moving from pediatric to adult healthcare services.
Beyond presentations and discussions, this meeting was about collaboration, knowledge-sharing, and strengthening our community. Together, we strive to enhance care and improve outcomes for those affected by neuromuscular diseases.
📌 Below are the slides that were presented during our Annual Meeting.
Click directly on the session title to download the slides.
DAY 1 – WEDNESDAY, MARCH 5th
Keynote Lectures
Exercise and Neuromuscular Disorders – Nicole Voet (Radboudumc)
Sleep and Neuromuscular Disorders – Matthias Boentert (University of Münster)
Panorama of devices for the non-invasive assessment of the neuromuscular system – Jean-Yves Hogrel (Institute of Myology)
Patient reported outcome measures: PROMMY the new app in the PROMs’ ecosystem – Michelangelo Mancuso (Azienda Ospedaliera Universitaria Pisana)
Landscape of gene therapy practices across Europe – Kleopas Kleopa (The Cyprus Institute of Neurology and Genetics)
DAY 2 – THURSDAY, MARCH 6th
Transition of Care
Introduction and the Essen use case – Ulrike Schara-Schmidt and Tim Hagenacker (University of Duisburg-Essen)
A French centre experience – Marion Masingue (AP-HP / Institute of Myology)
EURO-NMD’s transition survey results – Teresinha Evangelista (AP-HP / Institute of Myology)
EURO-NMD outreach activities
NMD4C – interaction between neuromuscular networks – Hanns Lochmüller (University of Ottawa)
FSHD Europe & FSHD European Trial Network (ETN) – Nicol Voermans and Ria de Haas (Radboudumc)
ERDERA – Funding and Clinical Research Network contributions for ERNs development– Gisèle Bonne (Inserm / AP-HP / Institute of Myology)
Satellite Scientific Symposium: Newborn Screening – 06/03/2025
This symposium was sponsored by Novartis & UCB.
Introduction – Teresinha Evangelista, AP-HP
Genetic newborn screening through targeted gene panel and WGS: the Screen4Care approach – Fernanda Fortunato, University of Ferrara
NBS for Spinal Muscular Atrophy – Jan Kirschner, Uniklinikum Freiburg
NBS for SMA seen by patients and carers – Marie-Christine Ouillade, AFM Téléthon / SMA Europe
NBS for Duchenne Muscular Dystrophy – Elizabeth Vroom, World Duchenne Organization
NBS for Cystic Fibrosis: The German landscape – Lutz Nährlich, Justus-Liebig-Universität Gießen
NBS for Rare Metabolic Diseases – Maurizio Scarpa, Coordinator of MetabERN, ERN for Rare Metabolic Diseases
NBS for Rare Diseases – Gulcin Gumus, EURORDIS