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Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Publication ,  Journal Article
Forsha, D; Li, JS; Smith, PB; van der Ploeg, AT; Kishnani, P; Pasquali, SK; Late-Onset Treatment Study Investigators,
Published in: Genet Med
July 2011

PURPOSE: We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease. METHODS: Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. Electrocardiograms and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of enzyme replacement therapy were described. Three pediatric patients were excluded. RESULTS: Eighty-seven patients were included. Median age was 44 years; 51% were men. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in mild range). There was no change in cardiovascular status associated with enzyme replacement therapy. No significant safety concerns related to enzyme replacement therapy were identified. CONCLUSIONS: Although some patients with late-onset Pompe disease had abnormalities on baseline electrocardiogram or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by enzyme replacement therapy, and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.

Duke Scholars

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

July 2011

Volume

13

Issue

7

Start / End Page

625 / 631

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Middle Aged
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Follow-Up Studies
  • Female
  • Enzyme Replacement Therapy
 

Citation

APA
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ICMJE
MLA
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Forsha, D., Li, J. S., Smith, P. B., van der Ploeg, A. T., Kishnani, P., Pasquali, S. K., & Late-Onset Treatment Study Investigators, . (2011). Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med, 13(7), 625–631. https://doi.org/10.1097/GIM.0b013e3182142966
Forsha, Daniel, Jennifer S. Li, P Brian Smith, Ans T. van der Ploeg, Priya Kishnani, Sara K. Pasquali, and Sara K. Late-Onset Treatment Study Investigators. “Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.Genet Med 13, no. 7 (July 2011): 625–31. https://doi.org/10.1097/GIM.0b013e3182142966.
Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK, et al. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul;13(7):625–31.
Forsha, Daniel, et al. “Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.Genet Med, vol. 13, no. 7, July 2011, pp. 625–31. Pubmed, doi:10.1097/GIM.0b013e3182142966.
Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK, Late-Onset Treatment Study Investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul;13(7):625–631.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

July 2011

Volume

13

Issue

7

Start / End Page

625 / 631

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Middle Aged
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Follow-Up Studies
  • Female
  • Enzyme Replacement Therapy