ArticleMolecular genetics and metabolism reports2018
Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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
14 citing papers in PubMed.
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.Genetics in medicine open · 2026Article
- Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.Molecular genetics and metabolism reports · 2025Article
- 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
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism.Clinical and translational science · 2023Review
- The Clinical Management of Pompe Disease: A Pediatric Perspective.Children (Basel, Switzerland) · 2022Review
- A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.Molecular genetics and metabolism reports · 2022Article
- Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.Frontiers in neurology · 2021Review
- Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.Molecular genetics and metabolism reports · 2020Article
- Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.Molecular therapy. Methods & clinical development · 2019Article
- Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries.Molecular genetics and metabolism reports · 2018Article
- Double dose alglucosidase-alpha doubles benefit?Molecular genetics and metabolism reports · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile Onset Pompe Disease (IOPD). The U.S. Food and Drug Administration approved alglucoside alfa at dosing of 20 mg/kg every other week, but there are small studies and case reports suggesting that dosing higher than this leads to improved ventilator free survival and development without adverse events. We review the clinical course and short term clinical outcomes one year following late diagnosis of IOPD in a 3 month old who presented severely affected and was treated with 40 mg/kg twice a week for 21 infusions until six months of age then transitioned to 40 mg/kg/week. The patient responded well to 40 mg/kg twice a week treatment without adverse reactions and significant clinical improvement.
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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.