Quantitative computed tomography for enzyme replacement therapy in Pompe disease

Area of Science:

• Biochemistry
• Genetics
• Medical Imaging

Background:

• Pompe disease is a rare genetic disorder caused by acid alpha-glucosidase (GAA) deficiency.
• Enzyme replacement therapy (ERT) is a treatment for Pompe disease.
• Systematic CT analysis before and during ERT has not been previously reported.

Observation:

• Three late-onset Pompe disease patients underwent 24 months of ERT.
• Serial computed tomography (CT) numbers of multiple organs were measured.
• Urinary glucose tetrasaccharide levels, a biomarker for glycogen accumulation, were monitored.

Findings:

• Patients showed elevated liver and muscle CT numbers before ERT, indicating glycogen accumulation.
• ERT led to a decrease in liver CT numbers.
• Urinary glucose tetrasaccharide levels decreased with ERT.

Implications:

• Elevated liver CT numbers correlate with hepatic glycogen accumulation in Pompe disease.
• Liver CT number analysis serves as a valuable method for evaluating ERT effectiveness.
• This study highlights a novel imaging biomarker for Pompe disease management.