Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

• Published in: Cardiology in the young 2022-03, Vol.32 (3), p.364-373
• Main Authors: Byrne, Barry J., Colan, Steven D., Kishnani, Priya S., Foster, Meredith C., Sparks, Susan E., Gibson, James B., An Haack, Kristina, Stockton, David W., Peña, Loren D. M., Hahn, Si Houn, Johnson, Judith, Tanpaiboon, Pranoot X., Leslie, Nancy D., Kronn, David, Hillman, Richard E., Wang, Raymond Y.
• Format: Article
• Language: English
• Subjects: Age; Blood pressure; Cardiac arrhythmia; Cardiomegaly - drug therapy; Cardiomegaly - etiology; Cardiomyopathy; Cohort Studies; Echocardiography; EKG; Electrocardiography; Enzyme Replacement Therapy - adverse effects; Enzyme Replacement Therapy - methods; Enzymes; Genotype; Genotypes; Glucosidase; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - drug therapy; Health services; Heart diseases; Humans; Hypertension; Hypertrophy; Original Article; Other; Patients; Phenotype; Phenotypes; Ventricle; α-Glucosidase
• ISSN: 1047-9511; 1467-1107
• DOI: 10.1017/S1047951121002079

Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpublished cardiac findings, concomitant medications, and cardiac efficacy and safety outcomes from the ADVANCE study; trajectories of patients with abnormal left ventricular mass z score at enrolment; and post hoc analyses of on-treatment left ventricular mass and systolic blood pressure z scores by disease phenotype, GAA genotype, and “fraction of life” (defined as the fraction of life on pre-study 160 L production-scale alglucosidase alfa). ADVANCE evaluated 52 weeks’ treatment with 4000 L production-scale alglucosidase alfa in ≥1-year-old United States of America patients with Pompe disease previously receiving 160 L production-scale alglucosidase alfa. M-mode echocardiography and 12-lead electrocardiography were performed at enrolment and Week 52. Sixty-seven patients had complete left ventricular mass z scores, decreasing at Week 52 (infantile-onset patients, change −0.8 ± 1.83; 95% confidence interval −1.3 to −0.2; all patients, change −0.5 ± 1.71; 95% confidence interval −1.0 to −0.1). Patients with “fraction of life”