ArticleJournal of medical genetics2022
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 66 citations in OpenAlex.
- Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.Journal of inherited metabolic disease · 2026Article
- Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.International journal of molecular sciences · 2026Article
- Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX.International journal of molecular sciences · 2026Observational
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification.Frontiers in genetics · 2026Review
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Serum N-glycosylation is altered in Nephropathic Cystinosis.Glycobiology · 2025Article
- Reduced-intensity conditioning in LV-mediated gene therapy for Fabry disease targeting HSPCs.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.Orphanet journal of rare diseases · 2025Article
- Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.Molecular genetics and metabolism reports · 2025Review
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Globotriaosylceramide as a potential biomarker for auxiliary detection of lower respiratory tract infections ofExperimental and therapeutic medicine · 2025Article
- MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.Biomedicines · 2025Article
- Article
- The Identification of a Novel Pathogenic Variant of theInternational journal of molecular sciences · 2025Article
- Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial.Clinical and translational medicine · 2025Article
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.Orphanet journal of rare diseases · 2024Article
- Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (
methodsIn a cohort of 66 patients with genetically confirmed FD (26 males and 40 females), we analysed serum Lyso-Gb3 as a factor associated with adverse clinical outcomes in a long-term study. The main outcome was a composite endpoint of incident kidney replacement therapy, atrial fibrillation, pacemaker and/or implantable cardioverter defibrillator, cerebrovascular events or death, whichever occurred first.
resultsDuring the median follow-up time of 68 (40-80) months, events occurred in 19 (29%) of the patients. In a Cox multivariate regression analysis, Lyso-Gb3 levels (HR 4.62 (1.55 to 13.81); p=0.006) and the pretreatment exposure to Lyso-Gb3 (HR 3.41 (1.11 to 10.49); p=0.03) (both per SD increase) were significantly associated with adverse outcomes. If pretreatment Lyso-Gb3 exposure was added to multivariable logistic regression models containing age, sex, phenotype and enzyme replacement therapy as other covariates with the composite outcome as dependent variable, the area under the curve for the composite outcome significantly improved from 0.72 to 0.86 (p comparison=0.04).
conclusionLyso-Gb3 is a significant risk factor associated with important clinical events. Whether treatment-related amelioration of Lyso-Gb3 levels will be associated with improved long-term outcome needs to be established in prospective intervention trials.
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