ArticleOrphanet journal of rare diseases2020
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Walking test outcomes in adults with genetic neuromuscular diseases: a systematic literature review of their measurement properties.European journal of physical and rehabilitation medicine · 2024Pooled it
- AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.EClinicalMedicine · 2026Article
- Article
- Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.Current cardiology reviews · 2026Review
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- A model to predict the 6-Minute Walk Distance in Pompe disease.Journal of neuromuscular diseases · 2025Article
- Splicing correction by peptide-conjugated morpholinos as a novel treatment for late-onset Pompe disease.Molecular therapy. Nucleic acids · 2025Article
- Health-Related Quality-of-Life Utility Values in Adults With Late-Onset Pompe Disease: Analyses of EQ-5D Data From the PROPEL Clinical Trial.Journal of health economics and outcomes research · 2024Article
- Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.Neurology · 2023Article
- The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.Genes · 2023Review
- Model-Informed Approach Supporting Approval of Nexviazyme (Avalglucosidase Alfa-ngpt) in Pediatric Patients with Late-Onset Pompe Disease.The AAPS journal · 2023Article
- The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.Frontiers in pediatrics · 2023Article
- Pompe disease in China: clinical and molecular characteristics.Frontiers in cardiovascular medicine · 2023Article
- Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.Orphanet journal of rare diseases · 2022Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.International journal of environmental research and public health · 2022Article
- Is the brain involved in patients with late-onset Pompe disease?Journal of inherited metabolic disease · 2022Article
- Review
- Article
- Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.Annals of translational medicine · 2021Article
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Authors and funding
16 authors at 9 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundLate-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT).
methodsWe studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine.
resultsIn Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05).
conclusionsAwareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.
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