ReviewAnnals of translational medicine2019
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.
Review in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 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.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.European journal of neurology · 2026Guideline
- Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.Journal of neurology · 2025Trial
- Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.Journal of neuromuscular diseases · 2025Trial
- Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.Journal of patient-reported outcomes · 2024Trial
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).Journal of neurology · 2024Trial
- 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
- Review
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.ClinicoEconomics and outcomes research : CEOR · 2026Article
- 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
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population.Journal of neurology · 2025Article
- Splicing correction by peptide-conjugated morpholinos as a novel treatment for late-onset Pompe disease.Molecular therapy. Nucleic acids · 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
- Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.Italian journal of pediatrics · 2025Article
- Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.International journal of molecular sciences · 2025Review
- Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.Molecular diagnosis & therapy · 2024Review
- Article
- Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.Orphanet journal of rare diseases · 2024Article
- 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
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression in two main forms: the first one, infantile onset Pompe disease (IOPD), presents before the age of 12 months with generalized muscle weakness, hypotonia, respiratory distress, and hypertrophic cardiomyopathy as main clinical features. The second form, late onset Pompe disease (LOPD), is characterized by an onset at the age of 12 months to adulthood, hyperCKemia, and limb-girdle and axial muscle weakness, often complicated by respiratory muscles degeneration. In the last 10-15 years, an increasing interest in Pompe disease has led to multiple studies in an effort to clarify the emerging clinical aspects, to find out the best diagnostic tools to identify the disease as early as possible, and to offer new therapeutic options apart from enzyme replacement therapy (ERT). Since 2006, ERT-the first treatment for Pompe disease-has been universally accepted in the majority of countries all over the world. Although for years Pompe disease has been primarily considered a muscle disorder, nowadays it is clear that the involvement of several other organs has changed the cultural approach to this entity which is now viewed as a multisystem disorder. The emerging clinical aspects have greatly expanded the spectrum of the disease manifestations. In fact, central, peripheral, and autonomous nervous systems are often involved; vascular malformations and heart involvement are frequently observed; musculoskeletal and bone changes as well as oro-gastrointestinal and urinary tract alterations have been better defined. A great deal of effort has been made to clarify the clinical aspects of Pompe disease, to raise awareness of the LOPD patients' problems and to improve their quality of life.
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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.