ArticleCurrent treatment options in neurology2022
Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.
Article in Current treatment options in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 70 citations in OpenAlex.
- Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.Journal of neurology · 2025Trial
- GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.Molecular therapy. Advances · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- Measuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies.Advances in therapy · 2026Review
- Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.Disease models & mechanisms · 2026Article
- Transcriptional profiling reveals glucose-dependent regulation ofGenes & diseases · 2026Article
- New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.Genetics in medicine open · 2026Article
- Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.Current cardiology reviews · 2026Review
- Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.Biomedicines · 2025Review
- Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease.Molecular genetics and metabolism reports · 2025Article
- Current Achievements in Gene Therapy Strategies and Delivery Systems in Preclinical and Clinical Models of Heart Failure.Current heart failure reports · 2025Review
- The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.Orphanet journal of rare diseases · 2025Review
- Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease.CPT: pharmacometrics & systems pharmacology · 2025Article
- The Mythology of Polymyositis.Rheumatic diseases clinics of North America · 2025Review
- Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.International journal of neonatal screening · 2025Article
- Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers.Molecular neurobiology · 2025Article
- Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery.Cureus · 2025Article
- A model to predict the 6-Minute Walk Distance in Pompe disease.Journal of neuromuscular diseases · 2025Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Purpose of Review: This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease. We will review the available treatment options. We examine newly approved treatments as well as upcoming therapies in this condition. We also provide commentary on the unmet needs in clinical management and research for this disease. Recent Findings: In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) and since then a number of states have added Pompe disease to their slate of diseases for their Newborn Screening (NBS) program. Data emerging from these programs is revising our knowledge of incidence of Pompe disease. In 2021, two randomized controlled trials involving new forms of enzyme replacement therapy (ERT) were completed and one new product is already FDA-approved and on the market, whereas the other product will come up for FDA review in the fall. Neither of the new ERT were shown to be superior to the standard of care product, Summary: There are significant unmet needs as it relates to clinical care and therapeutics in Pompe disease as well as in research. The currently available treatments lose effectiveness over the long run and do not have penetration into neuronal tissues and inconsistent penetration in certain muscles. More definitive gene therapy and enzyme replacement strategies are currently in development and testing.
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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.