Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

ABSTRACT:

Background

Pompe disease (PD), caused by acid α-glucosidase (GAA) deficiency, leads to glycogen accumulation in various tissues including the central nervous system. While enzyme replacement therapy (ERT) is lifesaving, it does not cross the blood-brain barrier. CNS manifestations including sensorineural hearing loss, dysarthria, and cognitive delay-persist despite ERT. Hence, CNS-specific biomarkers are needed to identify at-risk patients and guide monitoring and treatment. This clinical, retrospective study evaluated the utility of plasma glial fibrillary acidic protein (GFAP) as a potential biomarker of CNS involvement in infantile-onset Pompe disease (IOPD) compared to plasma neurofilament light chain (NfL).

Methods

Plasma GFAP and NfL levels were measured longitudinally

SUBMITTER: Regmi N 

PROVIDER: S-EPMC12805081 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature