ArticlePloS one2017
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 4 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
59 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Imaging predictors of adverse prognosis in Fabry disease cardiomyopathy: A systematic review and meta-analysis.European journal of clinical investigation · 2025Pooled it
- Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review.Advances in therapy · 2025Pooled it
- Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis.Radiology. Cardiothoracic imaging · 2024Pooled it
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Renal involvement in Fabry disease from Tunisian families: Six case reports.World journal of nephrology · 2026Article
- Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.Molecular genetics and metabolism reports · 2026Article
- Integrated Glyco-Analytical Strategy for Comprehensive Characterization of a Complex Therapeutic Glycoprotein: Fabrazyme.International journal of molecular sciences · 2026Article
- Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement.JACC. Case reports · 2026Article
- Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series.Frontiers in pediatrics · 2026Article
- Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.Journal of clinical medicine · 2025Review
- Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Review
- Current status of the immunogenicity of enzyme replacement therapy in fabry disease.Orphanet journal of rare diseases · 2025Review
- Epidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centre.Journal of nephrology · 2025Article
- Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.JIMD reports · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.Orphanet journal of rare diseases · 2024Article
- Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.International journal of molecular sciences · 2024Review
- Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice.Molecular genetics and metabolism reports · 2024Article
- 2024 Update of the TSOC Expert Consensus of Fabry Disease.Acta Cardiologica Sinica · 2024Article
- Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence. As expected, age, sex and phenotype were important predictors of event rate. Clinical events before enzyme replacement therapy, cardiac mass and eGFR at baseline predicted an increased event rate. eGFR was the most important predictor: hazard ratios increased from 2 at eGFR <90 ml/min/1.73m2 to 4 at eGFR <30, compared to patients with an eGFR >90. In addition, men with classical disease and a baseline eGFR <60 ml/min/1.73m2 had a faster yearly decline (-2.0 ml/min/1.73m2) than those with a baseline eGFR of >60. Proteinuria was a further independent risk factor for decline in eGFR. Increased cardiac mass at baseline was associated with the most robust decrease in cardiac mass during treatment, while presence of cardiac fibrosis predicted a stronger increase in cardiac mass (3.36 gram/m2/year). Of other cardiovascular risk factors, hypertension significantly predicted the risk for clinical events. In conclusion, besides increasing age, male sex and classical phenotype, faster disease progression while on enzyme replacement therapy is predicted by renal function, proteinuria and to a lesser extent cardiac fibrosis and hypertension.
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