ArticleJournal of medical genetics2005
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01268241 (International Observational Retrospective Case Review of Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Males and Females With Anderson-Fabry Disease), which is not on this map. Cited by 44 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
International Observational Retrospective Case Review of Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Males and Females With Anderson-Fabry Disease
Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- Quality of life in patients with Fabry disease: a systematic review of the literature.Orphanet journal of rare diseases · 2015Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.Orphanet journal of rare diseases · 2026Trial
- Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.Nature communications · 2026Trial
- A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.Journal of inherited metabolic disease · 2025Trial
- Effectiveness of a calcium sodium phosphosilicate-containing prophylaxis paste in reducing dentine hypersensitivity immediately and 4 weeks after a single application: a double-blind randomized controlled trial.Journal of clinical periodontology · 2013Trial
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials.Advances in therapy · 2025Article
- Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.Orphanet journal of rare diseases · 2025Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- The estimation of health state utility values in rare diseases: do the approaches in submissions for NICE technology appraisals reflect the existing literature? A scoping review.The European journal of health economics : HEPAC : health economics in prevention and care · 2023Article
- Cardiovascular Involvement in Fabry's Disease: New Advances in Diagnostic Strategies, Outcome Prediction and Management.Cardiac failure review · 2023Review
- Shared decision making between patients with Fabry disease and physicians in Japan: An online survey.Molecular genetics and metabolism reports · 2022Article
- Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.Orphanet journal of rare diseases · 2022Review
- Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.Molecular genetics and metabolism reports · 2022Article
- The correlation of small fiber neuropathy with pain intensity and age in patients with Fabry's disease: A cross sectional study within a large Taiwanese family.Biomedical journal · 2022Article
- Multidisciplinary Management of Fabry Disease: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.JIMD reports · 2021Article
- Survey about the Quality of Life of Italian Patients with Fabry Disease.Diseases (Basel, Switzerland) · 2021Article
- The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all tissues, including the blood vessels, kidney, myocardium, and nervous system. Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites.
aimsThis study set out to evaluate pain and its influence on quality of life in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase alfa.
methodsData were obtained from the Fabry Outcome Survey. Pain was measured using the Brief Pain Inventory (BPI), and health-related quality of life (HRQoL) was documented with the European Quality of Life Questionnaire (EQ-5D).
resultsThe mean (SD) score for "pain at its worst" on the BPI prior to ERT was 5.1 (2.7). One year after commencement of ERT, this had improved by 0.5, and improved by a further 0.6 after 2 years (p<0.05). Similar statistically significant improvements were seen for "pain on average" and "pain now" after 2 years of ERT. The mean HRQoL utility score prior to ERT was 0.66 (0.32). After 12 months of treatment with agalsidase alfa, this had improved to 0.74 (0.26; p<0.05); this improvement was maintained after 2 years.
conclusionsERT with agalsidase alfa significantly reduces pain and improves quality of life in patients with Fabry disease.
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Registered trials
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.