PhD defence I.A.M. (Imke) Ditters

Below is a brief summary of the dissertation:

Pompe disease is a muscle disease in which large sugars (glycogen) accumulate due to a deficiency of an enzyme that helps to break down this large sugar (α-glucosidase). This thesis describes over 25 years of experience with enzyme replacement therapy (ERT) in the Netherlands.
First, we found that patients with the most severe form of the disease (classic infantile Pompe) disease who received a high ERT dose (40 mg/kg every week) had better survival and walking ability than those receiving the standard dose (20 mg/kg every two weeks).
Second, the research showed that ERT can safely be given at home. Most infusion-related reactions were mild, and serious reactions were rare. Home treatment can reduce treatment burden and improve patients’ quality of life. 
Finally, the thesis studied the immune response (antibodies) against ERT. In most patients with late-onset Pompe disease, antibodies did not clearly affect treatment results. However, in some individuals, high antibody levels may reduce treatment effectiveness and increase the risk of infusion reactions.
Overall, the findings help improve the effectiveness, safety, and patient-friendliness of ERT for Pompe disease.