ArticleBMJ open2016
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
Article in BMJ open, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03362164 (Prospective Monocentric Cohort Study to Evaluate Predictors for Heart Failure and Sudden Cardiac Death in Patients With Fabry Disease), which is not on this map. Cited by 24 papers, 1 of them a synthesis 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.
Prospective Monocentric Cohort Study to Evaluate Predictors for Heart Failure and Sudden Cardiac Death in Patients With Fabry Disease
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease.Orphanet journal of rare diseases · 2024Pooled it
- Intraepidermal nerve fiber density as a predictor of cardiac events in Fabry disease.European heart journal open · 2026Article
- Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases.Molecular genetics and metabolism reports · 2024Article
- Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?Balkan journal of medical genetics : BJMG · 2023Article
- How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Phenotyping of a novelFrontiers in genetics · 2023Article
- X-chromosomal inactivation patterns in women with Fabry disease.Molecular genetics & genomic medicine · 2022Article
- Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.Life (Basel, Switzerland) · 2022Article
- Prevalence of Fabry Disease among Patients with Parkinson's Disease.Parkinson's disease · 2022Article
- Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.Journal of clinical medicine · 2021Article
- Assessment of Peripheral Nervous System Alterations in Patients with the Fabry RelatedDiagnostics (Basel, Switzerland) · 2020Article
- Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus.Archives of rheumatology · 2020Article
- Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.Clinics (Sao Paulo, Brazil) · 2020Article
- Response to "Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data".Clinical pharmacology and therapeutics · 2019Article
- Future clinical and biochemical predictions of Fabry disease in females by methylation studies of theMolecular genetics and metabolism reports · 2019Article
- Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y.Journal of neurology · 2019Article
- Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.Clinical pharmacology and therapeutics · 2019Article
- Value of the CHAClinical research in cardiology : official journal of the German Cardiac Society · 2018Article
- Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.Orphanet journal of rare diseases · 2018Article
- Characterization of vertigo and hearing loss in patients with Fabry disease.Orphanet journal of rare diseases · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. SETTING AND
participantsIn this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included. PRIMARY AND SECONDARY OUTCOME MEASURES: Cardiac, nephrological, neurological, laboratory and quality of life data.
resultsAgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m(2); LV global longitudinal strain -21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter.
conclusionsThe results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD.
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.