ReviewTherapeutics and clinical risk management2023
Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.
Review in Therapeutics and clinical risk management, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.Indian journal of pediatrics · 2026Article
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.Orphanet journal of rare diseases · 2026Article
- Article
- First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease.Journal of neurology · 2026Observational
- A respiratory signature of disease progression in the Pompe rat.Journal of neurophysiology · 2026Article
- Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy.Annals of Indian Academy of Neurology · 2026Article
- Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.European journal of neurology · 2025Article
- Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery.Cureus · 2025Article
- GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.Respiratory physiology & neurobiology · 2025Article
- A Real-World Data Analysis of Alglucosidase Alfa in the FDA Adverse Event Reporting System (FAERS) Database.Drugs in R&D · 2025Article
- Management of Pompe disease alongside and beyond ERT: a narrative review.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.International journal of molecular sciences · 2025Review
- Diagnosis, management and monitoring of patients with Pompe disease in the UK.BMJ neurology open · 2025Review
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs.Therapeutic advances in rare diseaseReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-glucosidase (GAA) - a lysosomal enzyme responsible for hydrolyzing glycogen. GAA deficiency leads to accumulation of glycogen in lysosomes, causing cellular disruption. The severity of PD is directly related to the extent of GAA deficiency - if no or minimal GAA is produced, symptoms are severe and manifest in infancy, known as infantile onset PD (IOPD). If left untreated, infants with IOPD experience muscle hypotonia and cardio-respiratory failure leading to significant morbidity and mortality in the first year of life. In contrast, late-onset PD (LOPD) patients have more GAA activity and present later in life, but also have significant respiratory function decline. Despite FDA-approved enzyme replacement therapy, respiratory insufficiency remains a major cause of morbidity and mortality, emphasizing the importance of early detection and management of respiratory complications. These complications include impaired cough and airway clearance, respiratory muscle weakness, sleep-related breathing issues, and pulmonary infections. This review aims to provide an overview of the respiratory pathology, monitoring, and management of PD patients. In addition, we discuss the impact of novel approaches and therapies on respiratory function in PD.
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What OpenQuestion holds
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.