Pompe disease is a metabolic myopathy caused by acid α-glucosidase (GAA) deficiency and progressive glycogen accumulation in the lysosomes. In this thesis, hiPSC-derived muscle cells and 3D printing technologies were used to develop a 3D tissue-engineered skeletal muscle model system for neuromuscular disorders.
Recapitulation of neuromuscular disorders, including Pompe disease, Duchenne Muscular Dystrophy, and Limb Girdle Musclular Dystrophy, was achieved using CRISPR/Cas9 and shRNA technologies. The studies included in this thesis demonstrate that the tissue-engineered muscle system can mimic the complexity of human diseases and thereby provide a platform for the testing of novel therapies in humanalized models.
Promotors: Pim Pijnappel and Ans T. van der Ploeg, Erasmus MC University Medical Center
