Trial reportPediatric cardiology2008
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.
Trial report in Pediatric cardiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Enzyme replacement therapy for infantile-onset Pompe disease.The Cochrane database of systematic reviews · 2017Pooled it
- 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
- Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.Pediatric cardiology · 2026Article
- Review
- Identification of alterations of immunometabolism associated with Pompe disease.Cellular and molecular life sciences : CMLS · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2025Review
- Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.European heart journal · 2024Article
- Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis.Frontiers in pediatrics · 2024Review
- Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.Journal of clinical medicine · 2023Article
- Deciphering hypertrophic cardiomyopathy with electrocardiography.Heart failure reviews · 2022Review
- A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.Journal of clinical medicine · 2021Review
- The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.Progress in pediatric cardiology · 2021Article
- Clinical Insights Into Heritable Cardiomyopathies.Frontiers in genetics · 2021Review
- Lysosomal storage disease overview.Annals of translational medicine · 2018Review
- Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.Journal of medical case reports · 2018Article
- Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.Ochsner journal · 2018Article
- Current and Future Treatments for Lysosomal Storage Disorders.Current treatment options in neurology · 2017Review
- Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.Current cardiology reports · 2017Review
- Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease.The international journal of cardiovascular imaging · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundInfantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid alpha-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The disease is characterized by profound hypotonia, poor growth, organomegaly, and cardiomegaly. Severe hypertrophic cardiomyopathy often is present in early infancy, and most patients die of cardiac or respiratory failure in the first year of life. This report describes the cardiac response of infants with Pompe disease to a phase 2 trial of enzyme replacement therapy (ERT).
methodsEight patients with classical infantile Pompe disease were given intravenous recombinant human GAA (rhGAA) for 1 year. Cardiac monitoring included echocardiography, electrocardiograms (ECGs), chest radiographs, and clinical cardiac evaluation at 4, 8, 12, 24, 36, and 52 weeks. At 52 weeks, 6 patients were alive.
resultsMost of the treated patients had rapid regression of ventricular hypertrophy in response to ERT, with near normalization of posterior wall thickness, ventricular mass, and ventricular size. Systolic ventricular function was preserved despite rapid changes in ventricular mass and size. Concomitantly, ECGs documented lengthening of the PR interval and decreased ventricular voltages, whereas chest radiographs documented a decreased cardiothoracic ratio. Symptoms of pulmonary congestion were diminished, and survival was improved.
conclusionThe cardiovascular system responds quickly and strikingly to ERT with rhGAA, suggesting rapid reversal of excessive glycogen storage in cardiac muscle cells. Changes in ventricular mass and function are maintained throughout 1 year of follow-up evaluation and associated with decreased morbidity and prolonged survival.
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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.