ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.EClinicalMedicine · 2026Article
- Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine · 2026Article
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Authors and funding
12 authors.
Funding
Abstract
purposeThis study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11).
methodsMedical records were reviewed for multisystem involvement and biomarker trends. Central nervous system involvement was evaluated using a Modified Fazekas Score to grade white matter hyperintensities on brain magnetic resonance imaging.
resultsOf the initial 11 participants, 8 had survived to adulthood (median age 19.6 years), and 3 died (2 of arrhythmia, 1 of status epilepticus). All survivors began ERT between 0.2 to 6 months of age (7 at 20 mg/kg biweekly; 1 at 40 mg/kg biweekly), with subsequent escalation to 40 mg/kg/week of alglucosidase alfa between ages 8 to 15 years. None of the participants received immune modulation. Cardiac hypertrophy was resolved in all; 2 developed arrhythmias requiring intervention. None of the participants required invasive ventilation. Two participants were ambulatory; 6 used wheelchairs. Flaccid dysarthria (8/8), ptosis (4/8), and sensorineural hearing loss (6/8) were common. White matter hyperintensities were present in all but remained mild to moderate on Modified Fazekas Score. Cognitive function remained stable.
conclusionLong-term ERT preserves cardiac and respiratory function in adult infantile-onset Pompe disease survivors; however, multisystem morbidity persists, highlighting the need for earlier diagnosis and better therapies targeting muscle and other tissues including the central nervous system.
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