NIH R01 · 2025
Alveolar injury and repair in Pompe Disease
Project Summary/Abstract Pompe disease is a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA) – a lysosomal enzyme that hydrolyzes glycogen. GAA deficiency results in glycogen accumulation in the lysosomes of cardiac, skeletal, and smooth muscle as well as motor neurons1-3. Despite treatment with enzyme replacement therapy (ERT), many patients develop recurrent respiratory infections, restrictive lung disease, and respiratory insufficiency4,5. As a result, respiratory failure is still the leading cause of death6. Respiratory compromise was previously attributed to failure to protect the upper airway, diaphragm muscle weakness, motor neuron pathology,…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.