View clinical trials related to Fabry Disease.
Filter by:The study will evaluate the safety and efficacy of Replagal® (agalsidase alfa) at a dose of 0.2 mg/kg infused intravenously (IV) over 40 minutes, every other week. The study will monitor the course of disease in males and females with Fabry disease who are naive to treatment or were previously treated with agalsidase beta (Fabrazyme®).
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
The purpose of this study is to compare the safety and effectiveness of various doses of Replagal in patients with cardiomyopathy due to Fabry disease.
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.
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder due to the deficiency of alfa-galactosidase A (AGAL). The subsequent accumulation of glycosphingolipids may lead to to cardiac, renal, and central nervous system impairment as well as premature death. Recently published studies suggest that the true incidence of the disease may be underestimated in certain risk groups, e.g. in patients with chronic kidney disease (CKD). Therefore, the investigators initiated a multicenter case-finding study in Austria by screening patients with chronic kidney disease not yet on renal replacement therapy. Molecular isoforms of globotriaosylceramide (Gb3), characterized by different chain lengths of their N-acyl residues, will be determined in a urine sample. Characteristic parameters, including the ratio of C24/C18 isoforms will be used for identifying patients liable to have the disease. A positive result will be confirmed by biochemical and genetic testing. A sample size of 5.000 chronic kidney disease patients is envisaged allowing for detection of 1 to 25 patients with Anderson-Fabry disease.
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 treatment-naïve pediatric patients without severe symptoms. Patients will be treated for 5 years.
Study to evaluate the long-term safety, tolerability, and pharmacodynamics (PD) of migalastat hydrochloride (HCl) (migalastat) in participants with 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 Fabry disease may be symptomatic with cardiac, renal or cerebrovascular involvement. Clearance of Gb3 and stabilization of renal function has been demonstrated in male patients treated with agalsidase beta (FABRAZYME). In contrast, no randomized, controlled study of the efficacy of recombinant alpha-galactosidase A has been reported in heterozygotes for Fabry disease.