I completed my training as a neurologist at the Erasmus MC University Medical Center in Rotterdam in 2014, followed by a specialized trainig in neuromyology in 2018 (Erasmus MC and Hôpital universitaire Pitié-Salpêtrière Paris). As a neurologist, I am involved mainly in the care for adolescent and adult patients with neuromuscular diseases, especially patients with Pompe disease or other metabolic myopathies.
My research focuses on Pompe disease, a rare lysosomal storage disorder, coordinating a nationwide, prospective study in the Netherlands since 2004. My current research focuses on – finding predictive factors for – long-term outcome in children and adults with Pompe disease treated with enzyme-replacement therapy (ERT), the new emerging CNS phenotype in classic infantile patients, and development and validation of new outcome tools.
I am a board member of the European Pompe Consortium (founded in 2014) and by international collaboration our goal is to elucidate the factors underlying the variable disease course and response to treatment in order to establish a better, personalized treatment for all patients with Pompe disease.