ArticleJournal of patient experience2026
Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.
Article in Journal of patient experience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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Authors and funding
7 authors.
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Abstract
Late-onset Pompe disease (LOPD) is a rare neuromuscular disorder, where delays in diagnosis can result in inconsistent patient management and suboptimal use of effective treatments, thereby increasing patient burden. We conducted an exploratory, cross-sectional survey of 20 adults with LOPD in the UK and USA, recruited via patient advocacy groups and vetted databases. Our results showed that patients with LOPD experienced substantial delays from symptom onset to diagnosis. Interactions with healthcare professionals (HCPs) were inconsistent, and LOPD awareness among HCPs was insufficient. Patients were generally satisfied with their treatment, with 90% of patients reporting mild to no discomfort with enzyme replacement therapy or other treatments. However, 60% of patients implemented various nonpharmacological therapies to manage pain or other aspects of LOPD. These exploratory findings highlight persistent gaps in diagnosis and care, emphasizing the need for improved HCP education and integrated support services.
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