Skip to main content
Journal cover image

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Publication ,  Journal Article
Byrne, BJ; Colan, SD; Kishnani, PS; Foster, MC; Sparks, SE; Gibson, JB; An Haack, K; Stockton, DW; Peña, LDM; Hahn, SH; Johnson, J; Leslie, ND ...
Published in: Cardiol Young
March 2022

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 This article presents unpublished cardiac findings, concomitant medications, and cardiac efficacy and safety outcomes from the ADVANCE study; trajectories of patients with abnormal left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" <0.79 had left ventricular mass z score decreasing (enrolment: +0.1 ± 3.0; Week 52: -1.1 ± 2.0); those with "fraction of life" ≥0.79 remained stable (enrolment: -0.9 ± 1.5; Week 52: -0.9 ± 1.4). Systolic blood pressure z scores were stable from enrolment to Week 52, and no cohort developed systemic hypertension. Eight patients had Wolff-Parkinson-White syndrome. Cardiac hypertrophy and dysrhythmia in ADVANCE patients at or before enrolment were typical of Pompe disease. Four-thousand L alglucosidase alfa therapy maintained fractional shortening, left ventricular posterior and septal end-diastolic thicknesses, and improved left ventricular mass z score.Trial registry: ClinicalTrials.gov Identifier: NCT01526785 https://clinicaltrials.gov/ct2/show/NCT01526785.Social Media Statement: Post hoc analyses of the ADVANCE study cohort of 113 children support ongoing cardiac monitoring and concomitant management of children with Pompe disease on long-term alglucosidase alfa to functionally improve cardiomyopathy and/or dysrhythmia.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Cardiol Young

DOI

EISSN

1467-1107

Publication Date

March 2022

Volume

32

Issue

3

Start / End Page

364 / 373

Location

England

Related Subject Headings

  • Phenotype
  • Humans
  • Glycogen Storage Disease Type II
  • Genotype
  • Enzyme Replacement Therapy
  • Cohort Studies
  • Cardiovascular System & Hematology
  • Cardiomegaly
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Byrne, B. J., Colan, S. D., Kishnani, P. S., Foster, M. C., Sparks, S. E., Gibson, J. B., … Pompe ADVANCE Study Consortium, . (2022). Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiol Young, 32(3), 364–373. https://doi.org/10.1017/S1047951121002079
Byrne, Barry J., Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan E. Sparks, James B. Gibson, Kristina An Haack, et al. “Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.Cardiol Young 32, no. 3 (March 2022): 364–73. https://doi.org/10.1017/S1047951121002079.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, et al. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiol Young. 2022 Mar;32(3):364–73.
Byrne, Barry J., et al. “Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.Cardiol Young, vol. 32, no. 3, Mar. 2022, pp. 364–73. Pubmed, doi:10.1017/S1047951121002079.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiol Young. 2022 Mar;32(3):364–373.
Journal cover image

Published In

Cardiol Young

DOI

EISSN

1467-1107

Publication Date

March 2022

Volume

32

Issue

3

Start / End Page

364 / 373

Location

England

Related Subject Headings

  • Phenotype
  • Humans
  • Glycogen Storage Disease Type II
  • Genotype
  • Enzyme Replacement Therapy
  • Cohort Studies
  • Cardiovascular System & Hematology
  • Cardiomegaly
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology