ArticleJournal of inherited metabolic disease2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Article
- Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.Journal of neurology · 2024Observational
- Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.European journal of neurology · 2024Article
- Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2023Article
- Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.Neurology · 2023Article
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Pompe disease in China: clinical and molecular characteristics.Frontiers in cardiovascular medicine · 2023Article
- An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.Frontiers in neurology · 2023Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.World journal of clinical cases · 2022Article
- L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.Italian journal of pediatrics · 2022Article
- Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.BMJ case reports · 2022Article
- 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
- Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.Neurology. Genetics · 2021Article
- Broad variation in phenotypes for common GAA genotypes in Pompe disease.Human mutation · 2021Article
- Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.International journal of molecular sciences · 2021Article
- Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.Human mutation · 2021Article
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Authors and funding
17 authors.
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Abstract
Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Data were collected from the two main laboratories involved in PD diagnosis and from the French Pompe registry. Two hundred forty-six patients (130 females and 116 males) were included, with a mean age at diagnosis of 43 years. Eighty-three different mutations were identified in the GAA gene, among which 28 were novel. These variants were spread all over the sequence and included 42 missense (one affecting start codon), 8 nonsense, 15 frameshift, 14 splice mutations, 3 small in-frame deletions, and one large deletion. The common c.-32-13T>G mutation was detected in 151/170 index cases. Other frequent mutations included the exon 18 deletion, the c.525del, and the missense mutations c.1927G>A (p.Gly643Arg) and c.655G>A (p.Gly219Arg). Patients carrying the c.-32-13T>G mutation had an older mean age at onset than patients non-exhibiting this mutation (36 versus 25 years). Patients with the same genotype had a highly variable age at onset. We estimated the frequency of late-onset PD in France around 1/69,927 newborns. In conclusion, we characterized the French cohort of late-onset PD patients through a nationwide study covering more than 40 years.
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