Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2011
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses 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
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Cardiac magnetic resonance in Pompe disease: a systematic literature review.La Radiologia medica · 2026Pooled it
- Enzyme replacement therapy for late-onset Pompe disease.The Cochrane database of systematic reviews · 2023Pooled it
- Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Unfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an individually matched cohort study.Orphanet journal of rare diseases · 2026Article
- Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.Orphanet journal of rare diseases · 2026Article
- New advances in treating late-onset Pompe Disease: A narrative review.European journal of pediatrics · 2025Review
- In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy.Cureus · 2025Article
- The role of sphingolipids in heart failure.European heart journal open · 2025Review
- Electrocardiographic abnormalities in patients with cardiomyopathies.Heart failure reviews · 2024Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.Current treatment options in neurology · 2022Article
- A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.Journal of clinical medicine · 2021Review
- Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.Journal of clinical medicine · 2021Review
- Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.Annals of translational medicine · 2019Review
- [Research advances in the diagnosis and treatment of Pompe disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Chagasic cardiomyopathy and Pompe disease: case report.American journal of cardiovascular disease · 2018Article
- Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.Cellular and molecular life sciences : CMLS · 2017Review
- Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2016Article
- Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease.The international journal of cardiovascular imaging · 2015Article
- Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeWe evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease.
methodsNinety 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.
resultsEighty-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.
conclusionsAlthough 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.
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What OpenQuestion holds
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.