ArticleAdvances in therapy2019
Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.
Article in Advances in therapy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease.Orphanet journal of rare diseases · 2024Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.Nature communications · 2026Trial
- Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.Orphanet journal of rare diseases · 2026Article
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 2026Article
- Article
- Human, economic, and social impact of lysosomal storage diseases.Orphanet journal of rare diseases · 2025Article
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.Orphanet journal of rare diseases · 2025Article
- Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice.Advances in therapy · 2025Review
- Human sensory-like neuron surfaceome analysis.PloS one · 2025Article
- Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.Orphanet journal of rare diseases · 2024Article
- FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.Journal of rare diseases (Berlin, Germany) · 2024Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.Orphanet journal of rare diseases · 2023Article
- Mitochondrial microRNAs Are Dysregulated in Patients with Fabry Disease.The Journal of pharmacology and experimental therapeutics · 2023Article
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease.Molecular genetics and metabolism reports · 2022Article
- Shared decision making between patients with Fabry disease and physicians in Japan: An online survey.Molecular genetics and metabolism reports · 2022Article
- Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults.Cardiovascular diagnosis and therapy · 2022Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A. Symptoms include neuropathic pain and gastrointestinal problems, such as diarrhoea. To inform and support the design of a Phase III clinical trial for a new oral treatment for Fabry disease, this study evaluated patients' experiences of Fabry disease symptoms, the impact of symptoms on their quality of life, and their views on participating in clinical trials.
methodsAn online survey questionnaire was distributed to patients with Fabry disease, through relevant patient organisations. The questionnaire consisted mainly of quantitative, closed questions with pre-defined response options. Fabry-specific pain intensity and its impact on quality of life were rated on a scale from 0 to 10.
resultsIn total, 367 patients completed the survey, of whom half reported frequent pain, moderate to severe pain, and pain in their hands and feet. Pain frequency, intensity and location were similar for males and females. There was no clear association between Fabry-specific pain and the use of enzyme replacement therapy (ERT), with moderate to severe pain reported by 80.4% of participants receiving ERT and by 75.0% of participants not receiving ERT. Of participants who were receiving ERT, 35.7% said they were willing to discontinue it to take part in a clinical trial testing a new oral drug for treating Fabry disease. Gastrointestinal symptoms were more heterogeneous in nature and frequency than Fabry-specific pain, but still affected a significant proportion of participants.
conclusionsBoth male and female patients with Fabry disease experience significant Fabry-specific pain, which affects their quality of life. Furthermore, frequent diarrhoea affects many patients. The symptoms occur independently of the use of ERT. This suggests the healthcare needs of patients with Fabry disease are not being fully met, and additional treatments are required to improve symptoms and quality of life.
fundingThis study was sponsored by Actelion Pharmaceuticals Ltd. Study sponsorship was transferred to Idorsia Pharmaceuticals Ltd in July 2018.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.