ArticlePediatric pulmonology2020
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
Article in Pediatric pulmonology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.Respiratory physiology & neurobiology · 2025Article
- GAA deficiency disrupts distal airway cells in Pompe disease.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.Therapeutics and clinical risk management · 2023Review
- Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.Journal of personalized medicine · 2021Article
- Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods.Journal of clinical medicine · 2021Article
- Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.Molecular therapy. Methods & clinical development · 2020Article
- The Respiratory Phenotype of Pompe Disease Mouse Models.International journal of molecular sciences · 2020Review
- Therapeutic acute intermittent hypoxia modestly improves breathing in Pompe disease.Respiratory physiology & neurobiologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
objectivesTo report the respiratory function of school-aged children with infantile Pompe disease (IPD) who started enzyme replacement therapy (ERT) in infancy and early childhood. STUDY
designThis is a retrospective chart review of pulmonary function tests of: (a) patients with IPD 5 to 18 years of age, (b) who were not ventilator dependent, and (c) were able to perform upright and supine spirometry. Subjects were divided into a younger (5-9 years) and older cohort (10-18 years) for the analysis. Upright and supine forced vital capacity (FVC), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP) were analyzed.
resultsFourteen patients, all cross-reactive immunologic material (CRIM)-positive, met the inclusion criteria and were included in this study. Mean upright and supine FVC were 70.3% and 64.9% predicted, respectively, in the 5- to 9-year-old cohort; and 61.5% and 52.5% predicted, respectively, in the 10- to 18-year-old group. Individual patient trends showed stability in FVC overtime in six of the 14 patients. MIPs and MEPs were consistent with inspiratory and expiratory muscle weakness in the younger and older age group but did not decline with age.
conclusionData from this cohort of CRIM-positive patients with IPD showed that ERT is able to maintain respiratory function in a subgroup of patients whereas others had a steady decline. There was a statistically significant decline in FVC from the upright to a supine position in both the younger and older age groups of CRIM-positive ERT-treated patients. Before ERT, patients with IPD were unable to maintain independent ventilation beyond the first few years of life.
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