SynthesisJournal of neurology2013
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Synthesis in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02708784 (Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica), which is not on this map. Cited by 88 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica
Who cites it
88 citing papers in PubMed, 4 syntheses or guidelines pooled it, 187 citations in OpenAlex.
- Enzyme replacement therapy for late-onset Pompe disease.The Cochrane database of systematic reviews · 2023Pooled it
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis.Journal of neurology · 2019Pooled it
- Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.Journal of neurology · 2017Pooled it
- Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.Journal of neuromuscular diseases · 2025Trial
- Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.Human gene therapy. Clinical development · 2017Trial
- Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study.Journal of cachexia, sarcopenia and muscle · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- 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
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.Orphanet journal of rare diseases · 2023Article
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.Frontiers in neurology · 2023Article
- Survey on the management of Pompe disease in routine clinical practice in Spain.Orphanet journal of rare diseases · 2022Article
- Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation.Molecular genetics and metabolism reports · 2022Article
- Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.European journal of neurology · 2022Article
- High-risk screening of late-onset Pompe disease: A different early portrait in China.Frontiers in neurology · 2022Article
- Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis.Molecular therapy. Methods & clinical development · 2021Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment of LOPD patients-published up to January 2012-were identified by electronic searching of the EMBASE and MEDLINE databases, and manual searching of the reference lists. Data on ERT outcomes were extracted from selected papers and analyzed descriptively. No statistical analysis was performed owing to data heterogeneity. Twenty-one studies containing clinical data from 368 LOPD patients were analyzed. Overall, at least two-thirds of patients were stabilized or had improved creatine kinase levels and muscular and/or respiratory function following treatment with alglucosidase alfa. ERT was well tolerated; most adverse events were mild or moderate infusion-related reactions. In conclusion, alglucosidase alfa treatment is effective and well tolerated and attenuates progression of LOPD in most patients. Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients.
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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.