PhD defence E.C. (Eva) Vlaar

Brief summary on the aim of the doctoral thesis:

Pompe disease is a genetic muscular disorder caused by a change in the DNA, leading to a deficiency in the enzyme acid alpha-glucosidase (GAA). This enzyme is crucial for the breakdown of sugars within cells. The deficiency of GAA results in the accumulation of sugars, which is particularly noticeable in muscle cells but can also affect the heart and the brain. Unfortunately, the efficacy of the current treatment for Pompe disease varies among individuals, and cannot reach the brain. To address this, we developed a gene therapy for Pompe disease. In this treatment, a harmless inactive virus is used to replace the altered segment of DNA with a 'correct' segment in the patient’s stem cells, enabling the cells to produce the missing GAA enzyme. After treatment, these corrected stem cells act as 'factories' capable of a lifelong continuous production and secretion of the GAA enzyme into the bloodstream, where it can be absorbed by muscles and the heart. Additionally, our research has demonstrated that this treatment also allows GAA to reach the brain. Our goal is to further refine this therapy and ultimately test this gene therapy in clinical studies. Successful implementation would not only address symptoms but also target the underlying cause of Pompe disease, significantly impacting patient care.