ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
The emerging phenotype of long-term survivors with infantile Pompe disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 5 of them syntheses that pooled it.
What it found
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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.
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Who cites it
112 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.Developmental medicine and child neurology · 2025Pooled it
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled 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
- The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.BMC neurology · 2017Pooled it
- Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.Experimental neurology · 2017Trial
- Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis.Orphanet journal of rare diseases · 2026Article
- Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.JIMD reports · 2026Article
- Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Article
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy.JACC. Case reports · 2025Article
- Results of orthodontic procedure in a patient with classic infantile Pompe disease.Italian journal of pediatrics · 2025Article
- A myotropic AAV vector combined with skeletal muscleMolecular therapy. Methods & clinical development · 2025Article
- Review
- Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.Molecular genetics and metabolism reports · 2025Article
- Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2025Review
- Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.Molecular genetics and metabolism reports · 2024Article
- Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis.Children (Basel, Switzerland) · 2024Review
- Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.Orphanet journal of rare diseases · 2024Article
- Precision medicine in action for Pompe disease.Molecular therapy. Nucleic acids · 2024Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
purposeEnzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors.
methodsInclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor, and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status.
resultsEleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers.
conclusionLong-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings.
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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.