Symposium: Elevating LOPD care

Late-onset Pompe disease: Elevating care through patient insights

Hear survey data from patients with late-onset Pompe disease (LOPD) on overlooked symptoms and unmet needs in this symposium, held at WORLDSymposium 2025.

Watch Benedikt Schoser, Priya Sunil Kishnani, and Tahseen Mozaffar discuss lessons learned from patients, and how their insights inform optimal disease management strategies, for better outcomes.

View transcript.

Hear about:

• The large impact of patient insights on clinical practice and contemporary LOPD research
• The significant burden delayed diagnosis confers on people living with LOPD and the role of physicians and medical professionals in mitigating it
• The multisystemic impacts of the condition and how they may be clinically managed through a multidisciplinary approach
• Novel real-world data from a survey of patients with LOPD, revealing their lived experiences with healthcare

Meet the experts

Professor Benedikt Schoser

Benedikt Schoser is senior consultant neurologist at the Friedrich-Baur-Institute, Ludwig-Maximilians-Universität (LMU) Munich, Germany. He is a member of the executive board of the World Muscle Society and member of the European Academy of Neurology panel for neuromuscular disorders.

Professor Schoser has a long-standing interest in the pathogenesis and histopathology of muscular dystrophies, myotonic dystrophies, and metabolic myopathies. He has a special interest in translational gene therapy of myotonic dystrophies and glycogen storage disorders.

Disclosures: Amicus Therapeutics, argenx, Astellas Pharma, AVROBIO, Kedrion Biopharma, Maze Therapeutics, PepGen, Sanofi, and Taysha Gene Therapies.

Dr. Priya Sunil Kishnani

Priya Sunil Kishnani is Chief of the Division of Medical Genetics in the Department of Pediatrics, and Professor of Molecular Genetics and Microbiology at Duke University Medical Center, Durham, North Carolina, USA. Her research focuses on long-term complications of Pompe disease, as well as glycogen and lysosomal storage disorders.

Disclosures: Amicus Therapeutics, Asklepios BioPharmaceutical, Inc. (AskBio), Baebies, Bayer, Sanofi–Genzyme, and Maze Therapeutics.

Dr. Tahseen Mozaffar

Tahseen Mozaffar is a Professor of Neurology, and Pathology and Laboratory Medicine, and the Director of the Division of Neuromuscular Disorders at University of California, Irvine, USA. He is the Principal Investigator for UCI-NEXT and the Lead Investigator for INSPIRE-IBM. Dr. Mozaffar’s research interests include several neuromuscular disorders: myasthenia gravis, immune myopathies, rare myopathies, and ultra-rare myopathies.

Disclosures: Alexion, Amicus Therapeutics, AnnJi Pharmaceutical, argenx, Arvinas, Asklepios BioPharmaceutical, Inc. (AskBio), Audentes Therapeutics, AVROBIO, Cabaletta Bio, Cartesian Therapeutics, Grifols, Horizon Therapeutics (now Amgen), Immunovant, Maze Therapeutics, ML-Bio, Momenta (now Janssen), Muscular Dystrophy Association, Myositis Association, National Institutes for Health, Ra Pharmaceuticals (now UCB), Sanofi–Genzyme, Shionogi, Spark Therapeutics, UCB, Valerion, and Zogenix (now UCB).