ArticleJournal of neurology2018
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.Revue neurologique · 2020Guideline
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition · 2026Article
- 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
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 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
- A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.Journal of neuromuscular diseases · 2022Review
- Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.Internal medicine journal · 2021Review
- The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.Journal of neurology · 2021Article
- Rehabilitation of Neuromuscular Diseases During COVID-19: Pitfalls and Opportunities.Frontiers in neurology · 2021Article
- Care for Patients With Neuromuscular Disorders in the COVID-19 Pandemic Era.Frontiers in neurology · 2021Review
- Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.Journal of neurology · 2019Review
- Molecular genetics of Pompe disease: a comprehensive overview.Annals of translational medicine · 2019Review
- A genetic modifier of symptom onset in Pompe disease.EBioMedicine · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAlthough not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary stop of ERT occurred in our study population. The aim of this study was to report the 36-months follow-up assessments after resuming ERT.
methodsAfter resuming ERT, seven patients suffering from genetically and enzymatically confirmed LOPD had periodic, mandatory, prospective assessments of pulmonary function tests, muscle strength summary scores, distances walked in timed walking tests, and patient-reported questionnaires. Data were statistically analyzed for significant differences between time points at ERT cessation, at ERT resuming, and 36 months thereafter.
resultsAfter resuming ERT forced vital capacity (p = 0.007) and distance walked in the 6 min walk test (6-MWT, p = 0.011) significantly increased at 36 months. Compared to before ERT cessation, distance walked in 6-MWT at 36 months still remained significantly lower (p = 0.005). Self-reported scores in the fatigue severity scale significantly declined at 36 months after resuming ERT (p = 0.019). No other functional or reported parameter significantly changed at 36 months after resuming ERT.
conclusionsOur data suggests that long-term interruption of ERT in LOPD may lead to deterioration of clinical meaningful parameters and quality of life. In addition, a clinical restoration after ERT cessation is possible for most of the LOPD patients within a 36 months follow-up.
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