Trial reportPloS one2015
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Trial report in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 21 papers, 3 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.
A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (Agalsidase Beta) in Treatment-Naïve Male Pediatric Patients With Fabry Disease Without Severe Symptoms
Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy
Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Cutaneous manifestations of Fabry disease: A systematic review.The Journal of dermatology · 2025Pooled it
- Pooled it
- Enzyme replacement therapy for Anderson-Fabry disease.The Cochrane database of systematic reviews · 2016Pooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Reduced α-galactosidase A activity in zebrafish (Molecular genetics and metabolism reports · 2022Article
- Fabry disease and kidney involvement: starting from childhood to understand the future.Pediatric nephrology (Berlin, Germany) · 2022Review
- Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease.Molecular genetics and metabolism reports · 2021Article
- Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.International journal of environmental research and public health · 2021Review
- Renal Manifestations of Fabry Disease: A Narrative Review.Canadian journal of kidney health and disease · 2021Review
- Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.Molecular genetics and metabolism reports · 2019Article
- Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study.Molecular genetics & genomic medicine · 2019Article
- Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?Pediatric nephrology (Berlin, Germany) · 2018Article
- Hearing loss in children with Fabry disease.Journal of inherited metabolic disease · 2017Article
- Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Journal of the American Society of Nephrology : JASN · 2017Article
- Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.PloS one · 2017Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 14 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
TRIAL
designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.
methodsMales aged 5-18 years with complete α-galactosidase A deficiency, without symptoms of major organ damage, were enrolled in a phase 3B trial evaluating two doses of agalsidase beta. Baseline disease characteristics of 31 eligible patients (median age 12 years) were studied, including cellular globotriaosylceramide (GL-3) accumulation in skin (n = 31) and kidney biopsy (n = 6; median age 15 years; range 13-17 years), renal function, and glycolipid levels (plasma, urine).
resultsPlasma and urinary GL-3 levels were abnormal in 25 of 30 and 31 of 31 patients, respectively. Plasma lyso-GL-3 was elevated in all patients. GL-3 accumulation was documented in superficial skin capillary endothelial cells (23/31 patients) and deep vessel endothelial cells (23/29 patients). The mean glomerular filtration rate (GFR), measured by plasma disappearance of iohexol, was 118.1 mL/min/1.73 m(2) (range 90.4-161.0 mL/min/1.73 m(2)) and the median urinary albumin/creatinine ratio was 10 mg/g (range 4.0-27.0 mg/g). On electron microscopy, renal biopsy revealed GL-3 accumulation in all glomerular cell types (podocytes and parietal, endothelial, and mesangial cells), as well as in peritubular capillary and non-capillary endothelial, interstitial, vascular smooth muscle, and distal tubules/collecting duct cells. Lesions indicative of early Fabry arteriopathy and segmental effacement of podocyte foot processes were found in all 6 patients.
conclusionsThese data reveal that in this small cohort of children with Fabry disease, histological evidence of GL-3 accumulation, and cellular and vascular injury are present in renal tissues at very early stages of the disease, and are noted before onset of microalbuminuria and development of clinically significant renal events (e.g. reduced GFR). These data give additional support to the consideration of early initiation of enzyme replacement therapy, potentially improving long-term outcome.
trial registrationClinicalTrials.gov NCT00701415.
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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.