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Alpha-Galactosidase A Replacement Therapy for Fabry Disease

2014-07-23 21:52:36 | BioPortfolio

Summary

This study will determine the safety of the drug Replagal or treating patients with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called Alpha-galactosidase A, which normally breaks down a fatty substance called globotriaosylceramide (Gb3), is missing or does not function properly. The resulting accumulation of Gb3 causes problems with the kidneys, heart, nerves, and blood vessels. Replagal is a genetically engineered form of Alpha-galactosidase A. Previous studies have shown that patients with Fabry disease who had not progressed to end-stage kidney failure tolerated Replagal replacement therapy well. This study will examine the effects of the drug in patients with kidney problems associated with Fabry disease.

Patients with Fabry disease who are on kidney dialysis, or have had a kidney transplant, may be eligible for this study.

During this 6 to 12-month study, participants will receive a 40-minute intravenous (IV) infusion of Replagal every other week, with close monitoring during and after the infusions. Before the first infusion, patients will be evaluated with a medical history, physical and neurological examinations, electrocardiogram (ECG), routine blood and urine tests, kidney test, and measurements of height, weight, and vital signs (blood pressure, pulse, breathing rate, temperature). In addition, they will have pharmacokinetic studies immediately before and following the first infusion of Replagal. For these studies, blood samples of less than a teaspoon each will be drawn to measure the level of Replagal enzyme activity. The samples will be collected at the following time points: immediately before the infusion; 20 minutes into the infusion; at the end of the infusion; after the infusion at 50, 60, and 90 minutes, and 2, 3, 4, and 8 hours.

Safety evaluations will be done once a week for the first month and then once a month for the rest of the study period. These evaluations include a physical examination, measurement of vital signs, electrocardiogram, routine blood and urine tests, and kidney testing.

Description

The objectives of this clinical trial are to study the effects of a range of renal function on the safety and pharmacokinetics of Replagal enzyme replacement therapy in patients with Fabry Disease. Patients with clinical and genetic or biochemical evidence of Fabry Disease will be selected for this clinical trial. Sixty (60) patients will be enrolled in this clinical trial. Enrollment will be stratified based on baseline renal function as per FDA guidelines. This is an open label clinical study. Baseline evaluations will be conducted over an approximately 3 day period. Patients will receive intravenous (IV) infusions of Replagal at a dose of 0.2 mg/kg/dose every 2 weeks. Pharmacokinetic studies will be performed with the first administered dose. The safety evaluations for patients in this study will include vital signs, physical examinations, adverse event (AE) assessments, electrocardiograms (ECG), and a battery of laboratory tests including measurement of anti-Replagal antibodies. An overview of the study appears in Appendix A.

Study Design

Endpoint Classification: Safety/Efficacy Study, Primary Purpose: Treatment

Conditions

Fabry Disease

Intervention

DRX005B

Location

National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda
Maryland
United States
20892

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:52:36-0400

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Diagnostic Value of the Electrocardiogram in Fabry Disease

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PubMed Articles [14379 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...

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.

Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena.

Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-ga...

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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