My research focuses on understanding and improving long-term outcomes in patients with Pompe disease receiving enzyme replacement therapy (ERT), with an emphasis on individual variability in treatment response. One of my key aims is to define the clinical trajectory of ERT over time, identifying patterns and factors that can inform personalised care. In addition, I work to optimise outcome measures both clinically and from the patient perspective. Central to this effort is my contribution to the development, refinement and implementation of the new IPA/Erasmus MC survey – an international initiative that captures the lived experiences of individuals with Pompe disease. By helping to shape this survey, I aim to ensure that the patient’s voice is meaningfully integrated into outcome assessments and research, promoting a more holistic understanding of treatment impact.