Effects and health economic aspects of enzyme therapy with Pompe disease

Project summary

Pompe disease is the first inherited muscle disease for which a disease-specific treatment has been developed: the deficient enzyme can be intravenously supplied through enzyme-replacement therapy (ERT) with alglucosidase alfa. Our aim is to investigate the long-term effects of enzyme-replacement therapy in children and adults with Pompe disease, and to define predictive factors for a favorable outcome.

By detailed investigation of the long-term effects we hope to find factors important for the response to enzyme treatment. This will help to implement ‘personalized’ treatment, and aid in the search for (better) future treatment modalities.