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Randomized Controlled Trial
. 2011 Jul;13(7):625-31.
doi: 10.1097/GIM.0b013e3182142966.

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

Daniel Forsha  1 , Jennifer S Li, P Brian Smith, Ans T van der Ploeg, Priya Kishnani, Sara K Pasquali; Late-Onset Treatment Study Investigators
Collaborators, Affiliations
Randomized Controlled Trial

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

Daniel Forsha et al. Genet Med. 2011 Jul.

Abstract

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.

Trial registration: ClinicalTrials.gov NCT00158600.

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References

    1. Martiniuk F, Chen A, Mack A, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998 Aug 27;79:69–72. - PubMed
    1. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counseling. Eur J Hum Genet. 1999;7:713–6. - PubMed
    1. Kishnani PS, Wuh-Liang H, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671–6. - PubMed
    1. Van Den Hout H, Hop W, Van Diggelen O, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112:332–40. - PubMed
    1. Engel AG, Gomez MR, Seybold ME, Lambert EH. The spectrum and diagnosis of Acid Maltase Deficiency. Neurology. 1973;23:95–106. - PubMed

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