Trial reportJournal of inherited metabolic disease2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Trial report in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02654886 (Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study), which is not on this map. Cited by 44 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.
Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study
Who cites it
44 citing papers in PubMed, 4 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.Biomolecules · 2023Pooled 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
- Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.Journal of neurology · 2013Pooled it
- Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.Orphanet journal of rare diseases · 2020Trial
- Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Trial
- 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.Journal of inherited metabolic disease · 2012Trial
- Bayesian multivariate linear mixed-effects models with varied association structures.Statistical methods in medical research · 2026Article
- New advances in treating late-onset Pompe Disease: A narrative review.European journal of pediatrics · 2025Review
- Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis.Children (Basel, Switzerland) · 2024Review
- Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.European journal of neurology · 2024Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- Article
- A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.Journal of clinical medicine · 2021Review
- Pregnancy Outcomes in Late Onset Pompe Disease.Life (Basel, Switzerland) · 2020Article
- Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.Orphanet journal of rare diseases · 2020Article
- Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.Annals of translational medicine · 2019Article
- Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.Molecular genetics and metabolism · 2019Article
- 36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.Journal of neurology · 2018Article
- Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.Acta neuropathologica communications · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesType II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase (rhGAA) has been demonstrated to be effective in the treatment of infantile forms of GSDII, but little information is available concerning late-onset phenotypes. Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII.
methodsTwenty-four patients, including 7 juveniles and 17 adults, received bi-weekly infusion of rhGAA (20 mg/kg) for at least 36 months. Clinical conditions, muscular function (6-min walking test, 6MWT; Walton scale, WS), respiratory function (vital capacity, VC; forced expiratory volume, FEV1; arterial pCO(2)), and muscle enzymes were assessed every 6 months.
resultsThe 6MWT improved in both juvenile and adult patients (p = 0.01, p = 0.0002, respectively), as well as in patients with moderate to severe muscle function impairment (WS >3.5; p = 0.002). An overall improvement in WS was also observed (p = 0.0003). VC and FEV1 remained unchanged, while pCO(2) decreased (p = 0.017). Muscle enzymes decreased significantly (p < 0.0001). Two patients (8%) showed transient secondary events during ERT.
conclusionsLong-term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late-onset GSDII. The response pattern showed a progressive clinical improvement during the follow-up period in juvenile patients, while in adults it reached and maintained a plateau after the first year of treatment.
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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.