Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2008
Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Trial
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.JIMD reports · 2026Article
- In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.The New England journal of medicine · 2022Article
- A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.Frontiers in immunology · 2020Article
- Long-term outcome and unmet needs in infantile-onset Pompe disease.Annals of translational medicine · 2019Review
- Lysosomal storage disease overview.Annals of translational medicine · 2018Review
- Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.The Journal of biological chemistry · 2015Article
- Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.JIMD reports · 2015Article
- The emerging phenotype of long-term survivors with infantile Pompe disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Cardiac Pathology in Glycogen Storage Disease Type III.JIMD reports · 2012Article
- Atypical immunologic response in a patient with CRIM-negative Pompe disease.Molecular genetics and metabolism · 2011Article
- Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.Molecular genetics and metabolism · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
purposeEnzyme replacement therapy in infants with Pompe disease prolongs survival, decreases cardiomegaly, and improves muscle function. Because ectopy has been previously described in these patients, we sought to determine the prevalence and types of arrhythmias.
methodsThirty-eight children with infantile Pompe disease received enzyme replacement therapy in two open-label, multicenter, international, clinical trials. Data were reviewed on a retrospective basis. The corrected QT interval, ejection fraction, and indexed left ventricular mass were measured on a scheduled basis from electrocardiograms and echocardiograms. Arrhythmias were identified and characterized from electrocardiograms, ambulatory electrocardiograms, and point-of-care monitoring. Electrocardiogram and echocardiogram measurements were compared in children with and without arrhythmias.
resultsSeven children (18%) experienced arrhythmias. The QT interval, ejection fraction, indexed left ventricular mass, and rate of reduction of indexed left ventricular mass were not statistically different in those seven versus the other 31 children. Two children with life-threatening arrhythmias had among the highest combined baseline maximum indexed left ventricular mass and QT interval. Their arrhythmias occurred during severe metabolic stress from noncardiac illness.
conclusionsThere was a high incidence of arrhythmias in our cohort. The relationship of arrhythmias with enzyme replacement therapy, myocardial fibrosis, or simply longer survival is unknown. Therefore, further characterization of specific arrhythmia risk factors and continued vigilance regarding screening for arrhythmias in children receiving enzyme replacement therapy is warranted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.