Michelle Kruijshaar

Dr. Michelle Kruijshaar is a Researcher in the Department of Pediatrics at Erasmus University Rotterdam, specializing in Pompe disease and rare neuromuscular disorders. She actively contributes to the European Pompe Consortium and previously held external roles as coordinator of Swiss-Reg NMD at the Institute of Social and Preventive Medicine in Bern (2018-2019) and senior scientist at the Centre for Infections (2006-2011).

Her research centers on optimizing enzyme replacement therapy for Pompe disease, with emphasis on real-world evidence, clinical outcome measures (e.g., lung function and mobility), and pandemic impacts on rare disease patients. She develops evidence-based treatment protocols, including home-based infusion safety standards and clinically meaningful thresholds for therapeutic response, directly influencing European management guidelines.

Dr. Kruijshaar supervises emerging researchers and collaborates internationally through registries like Swiss-Reg NMD. Her work bridges patient communities, industry, and regulators to integrate real-world data into clinical decision-making, particularly for late-onset Pompe disease management.