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A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-Stage Renal Insufficiency.

2014-08-27 03:45:16 | BioPortfolio

Summary

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globotriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study is designed to verify that no loss of Fabrazyme occurs during simultaneous Fabrazyme infusion and hemodialysis in patients currently receiving Fabrazyme at a dose of 1.0 mg/kg every 2 weeks.

Study Design

Allocation: Non-Randomized, Control: Uncontrolled, Endpoint Classification: Safety Study, Intervention Model: Crossover Assignment, Masking: Open Label, Primary Purpose: Treatment

Conditions

Fabry Disease

Intervention

Fabrazyme (agalsidase beta)

Location

Trident Nephrology Associates
North Charleston
South Carolina
United States
29405

Status

Withdrawn

Source

Genzyme

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:45:16-0400

Clinical Trials [632 Associated Clinical Trials listed on BioPortfolio]

Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme

This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.

A Study of the Effects of Fabrazyme on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants

The purpose of this study is to observe the potential effects of Fabrazyme treatment on lactation and on the growth, development, and immunologic response of infants born to mothers with F...

A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms

The purpose of this study is to determine whether 2 alternative dosing regimens of Fabrazyme (agalsidase beta) (1.0 mg/kg every 4 weeks or 0.5 mg/kg every 2 weeks) are effective in treatme...

Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease

Fabry disease (OMIM 301500) is an X-linked inborn error of sphingolipid metabolism resulting from the deficiency of the lysosomal enzyme alpha-galactosidase A. Heterozygous females for Fab...

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain t...

PubMed Articles [15554 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...

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.

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.

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.

A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign 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).

A precursor to the AMYLOID BETA-PROTEIN (beta/A4). Alterations in the expression of the amyloid beta-protein precursor (ABPP) gene, located on chromosome 21, plays a role in the development of the neuropathology common to both ALZHEIMER DISEASE and DOWN SYNDROME. ABPP is associated with the extensive extracellular matrix secreted by neuronal cells. Upon cleavage, this precursor produces three proteins of varying amino acid lengths: 695, 751, and 770. The beta/A4 (695 amino acids) or beta-amyloid protein is the principal component of the extracellular amyloid in senile plaques found in ALZHEIMER DISEASE; DOWN SYNDROME and, to a limited extent, in normal aging.

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