Observational studyJournal of inherited metabolic disease2014
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
Observational study in Journal of inherited metabolic disease, 2014. 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.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Disease-specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: a systematic review.Heart (British Cardiac Society) · 2023Pooled it
- Pooled it
- A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.Journal of inherited metabolic disease · 2015Trial
- Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy.Orphanet journal of rare diseases · 2026Observational
- Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Not Just Neurons: Pain Is Orchestrated in Partnership with Many Non-neuronal Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.Journal of clinical medicine · 2025Review
- Clinical Research on Lysergic Acid Diethylamide (LSD) in Psychiatry and Neuroscience.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Article
- Cost-effectiveness analysis of enzyme replacement therapy for the treatment of Chinese patients with fabry disease: a Markov model.Frontiers in pharmacology · 2025Article
- Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation.Frontiers in immunology · 2025Article
- Article
- Biochemical Mechanisms beyond Glycosphingolipid Accumulation in Fabry Disease: Might They Provide Additional Therapeutic Treatments?Journal of clinical medicine · 2023Review
- Burden associated with Fabry disease and its treatment in 12-15 year olds: results from a European survey.Orphanet journal of rare diseases · 2022Article
- The Effect of Green Tea as an Adjuvant to Enzyme Replacement Therapy on Oxidative Stress in Fabry Disease: A Pilot Study.Frontiers in nutrition · 2022Article
- Review
- The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.Molecular genetics and metabolism reports · 2019Review
- Lysosomal storage disease overview.Annals of translational medicine · 2018Review
- Article
- Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.Journal of human genetics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
objectivesTo determine the effectiveness of enzyme replacement therapy (ERT) for adults and children with Fabry disease.
designCohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment and untreated patients contributed natural history data.
participantsConsenting adults (N = 289) and children (N = 22) with a confirmed diagnosis of Fabry disease attending a specialist Lysosomal Storage Disorder treatment centre in England. At recruitment 211 adults and seven children were on ERT (range of treatment duration, 0 to 9.7 and 0 to 4.2 years respectively). OUTCOME MEASURES: Clinical outcomes chosen to reflect disease progression included left ventricular mass index (LVMI); proteinuria; estimated glomerular filtration rate (eGFR); pain; hearing and transient ischaemic attacks (TIA)/stroke.
resultsWe found evidence of a statistically significant association between time on ERT and a small linear decrease in LVMI (p = 0.01); a reduction in the risk of proteinuria after adjusting for angiotensin-converting enzyme inhibitors and angiotensin receptor blockers (p < 0.001) and a small increase in eGFR in men and women without pre-treatment proteinuria (p = 0.01 and p < 0.001 respectively). The same analyses in children provided no statistically significant results. No associations between time on ERT and pain, risk of needing a hearing aid, or risk of stroke or TIAs, were found.
conclusionsThese data provide some further evidence on the long-term effectiveness of ERT in adults with Fabry disease, but evidence of effectiveness could not be demonstrated in children.
Indexed as
Identifiers
What OpenQuestion holds
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.