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Fabry Screening Study

2014-08-27 03:17:44 | BioPortfolio

Summary

To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population

Description

Fabry disease is an X-linked deficiency of alpha-galactosidase A resulting primarily in an accumulation of globotriaosylceramide (Gb3) in virtually all organs and systems. The main complications of Fabry disease are a 20-fold increased risk of ischemic stroke, cardiac disease including cardiomyopathy, atrio-ventricular conduction defects, a wide variety of arrhythmias, valvular dysfunction (insufficiency or stenosis) and cardiac vascular disease as well as progressive renal failure. Fabry disease cannot be easily diagnosed in patients with routine EKGs, echocardiograms or MRIs. Screening non-selected at-risk populations of patients with ischemic stroke or cardiac disease for urinary Gb3, alpha-galactosidase A activity and GLA gene mutations should enable the identification of patients previously undiagnosed with Fabry disease among the general population of patients with heart disease and stroke

Study Design

Observational Model: Cohort

Conditions

Fabry Disease

Location

Baylor Institute of Metabolic Disease
Dallas
Texas
United States
75226

Status

Recruiting

Source

Baylor Research Institute

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:17:44-0400

Clinical Trials [76 Associated Clinical Trials listed on BioPortfolio]

Fabry Outcome Survey (FOS)

The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease. The data from ...

Fabry Disease Registry

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of trea...

Evaluation of Phenotypic Variability in Fabry Disease

Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding h...

Relation Between Polymorphism in Genes Related to Kidney Disease and Renal Manifistations in Fabry Disease

The rational of the study is to try to predict which of the patients who suffer from Fabry disease will have End Stage Renal Disease. We hope to find correlation between certain modifier g...

Diagnostic Value of the Electrocardiogram in Fabry Disease

Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in ...

PubMed Articles [14376 Associated PubMed Articles listed on BioPortfolio]

Generation of Fabry cardiomyopathy model for drug screening using induced pluripotent stem cell-derived cardiomyocytes from a female Fabry patient.

Fabry disease is an X-linked disease caused by mutations in α-galactosidase A (GLA); these mutations result in the accumulation of its substrates, mainly globotriaosylceramide (Gb3). The accumulation...

Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Fabry disease is characterized by deficient expression/activity of α-GalA with consequent lysosomal accumulation in various organs of its substrate Gb3. Despite enzyme replacement therapy, Fabry dise...

Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
.

Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with me...

Genomic Screening of Fabry Disease in Young Stroke Patients: the Taiwan Experience and a Review of the Literature.

Fabry disease is a X-linked disease, and enzyme-based screening methods are not suitable for female patients.

Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role.

Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids...

Medical and Biotech [MESH] Definitions

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Members of the class of neutral glycosphingolipids. They are the basic units of SPHINGOLIPIDS. They are sphingoids attached via their amino groups to a long chain fatty acyl group. They abnormally accumulate in FABRY DISEASE.

Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).

Animate or inanimate sources which normally harbor disease-causing organisms and thus serve as potential sources of disease outbreaks. Reservoirs are distinguished from vectors (DISEASE VECTORS) and carriers, which are agents of disease transmission rather than continuing sources of potential disease outbreaks.

Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.

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