NIH R01 · 2024
Control of Breathing and Pompe Disease
Project Summary / Abstract: Pompe disease results from mutations in the gene for acid α-glucosidase (GAA) – an enzyme necessary to degrade lysosomal glycogen. Early-onset disease occurs in the absence of functional GAA which leads to cardiorespiratory failure early in life. Late-onset disease is associated with reduced GAA activity and gradual progression to respiratory failure. Work from our first two grant cycles indicates neural involvement in respiratory failure in Gaa-/- mice and Pompe patients. This is relevant since the standard of care – intravenous enzyme therapy using recombinant GAA - does not reach the central nervous system (CNS) and patients still progress to respiratory…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.