Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2018
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01526785 (A Phase 4 Open Label, Prospective Study in Patients With Pompe Disease to Evaluate The Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale), which is not on this map. Cited by 17 papers, 2 of them syntheses that pooled it.
What it found
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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.
A Phase 4 Open Label, Prospective Study in Patients With Pompe Disease to Evaluate The Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale
Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 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
- 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
- Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.Journal of neurology · 2024Observational
- Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials.Molecular genetics and metabolism reports · 2024Article
- Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis.Frontiers in pediatrics · 2024Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.Journal of child neurology · 2023Article
- Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.Frontiers in neurology · 2023Article
- Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.International archives of allergy and immunology · 2023Article
- Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.Journal of neuromuscular diseases · 2022Article
- Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back.Journal of personalized medicine · 2020Review
- 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
- Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.Human mutation · 2019Article
- Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Progress and challenges of gene therapy for Pompe disease.Annals of translational medicine · 2019Review
- Liver depot gene therapy for Pompe disease.Annals of translational medicine · 2019Review
- Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.Annals of translational medicine · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA.
methodsA total of 113 patients (87 with IOPD; 26 with LOPD) received 4,000 L rhGAA for 52 weeks dosed the same as previous 160 L rhGAA. Efficacy was calculated as the percentage of patients stable/improved at week 52 (without death, new requirement for invasive ventilation, left ventricular mass z-score increase >1 if baseline was >2, upright forced vital capacity decrease ≥15% predicted, or Gross Motor Function Measure-88 decrease ≥8 percentage points). Safety evaluation included an extension ≤20 months.
resultsWeek 52 data was available for 104 patients, 100 of whom entered the extension. At week 52, 87/104 (83.7%) were stable/improved. Overall survival was 98.1% overall, 97.6% IOPD, 100% LOPD; 92.4% remained invasive ventilator-free (93.4% IOPD, 88.7% LOPD). Thirty-five patients had infusion-associated reactions. Eight IOPD patients died of drug-unrelated causes.
conclusionsMost Pompe disease patients were clinically stable/improved after transitioning to 4,000 L rhGAA. Safety profiles of both rhGAA forms were consistent.
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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.