ArticleOrphanet journal of rare diseases2021
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- 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
- Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.ClinicoEconomics and outcomes research : CEOR · 2026Article
- Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease.Scientific reports · 2025Article
- Diagnosis, management and monitoring of patients with Pompe disease in the UK.BMJ neurology open · 2025Review
- Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands.Journal of health economics and outcomes research · 2025Article
- Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.European journal of neurology · 2024Article
- The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.Journal of inherited metabolic disease · 2024Article
- Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.Orphanet journal of rare diseases · 2024Article
- 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
- Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.Neurology. Clinical practice · 2023Article
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLate-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients' daily lives is limited. The objective of this study was to develop a conceptual model that captures the most relevant symptoms and functional limitations experienced by patients with LOPD, to inform the development of new patient-reported outcome (PRO) tools.
methodsA preliminary conceptual model was constructed following a literature review and revised through interviews with expert clinicians to identify important and relevant concepts regarding symptoms and impacts of LOPD. This preliminary model informed the development of a qualitative patient interview guide, which was used to gather the patient perspective on symptoms and impacts relating to LOPD or its treatment (including symptom/impact frequency and levels of disturbance). Patient interviews aided further refinement of the conceptual model. The findings from the patient interviews were triangulated with the literature review and clinician interviews to identify the most relevant and significant effects of LOPD from the patient perspective.
resultsMuscle weakness, fatigue, pain, and breathing difficulties (especially while lying down) were the most common and highly disturbing symptoms experienced by patients. Limitations associated with mobility (e.g., difficulty rising from a sitting position, getting up after bending) and activities of daily living, (e.g., reduced ability to participate in social/family activities or work/study) were the most frequently reported impacts with the highest levels of disturbance on the patient's daily life. These identified symptoms and impacts were included in the new conceptual model of disease.
conclusionsThis qualitative patient interview study, also informed by a literature review and clinician interviews, identified the most frequent and relevant symptoms and the functional impact of LOPD on patients. The study interviews also captured the patient-preferred language to describe symptoms and impacts of LOPD. The results from this study can be used to develop future PRO instruments that are tailored to the specific symptoms and impacts experienced by patients with LOPD.
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