Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.

ABSTRACT: Pompe disease (PD) is a multisystemic progressive disease caused by acid-alpha glucosidase (GAA) deficiency. Patients display a spectrum of phenotypes ranging from the severe, rapidly progressive infantile-onset PD (IOPD) form to the slower progressing late-onset PD (LOPD). Enzyme replacement therapies (ERTs) are the only approved treatments; they decrease mortality in IOPD while maintaining or improving motor and respiratory function in LOPD. These therapies do not cross the blood-brain barrier (BBB) and the long-term survival of ERT-treated IOPD patients revealed underlying neurological disease. We used PD as a model to evaluate delivery of GAA across the BBB using anti-transferrin receptor (TfR) antibodies and show robust glycogen clearance and reduced neuroinflammation in the CNS of mi

SUBMITTER: George K 

PROVIDER: S-EPMC12395447 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature