Active clinical trials for "Fabry Disease"

The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease. The secondary objectives are to analyze the correlations of these anomalies with changes in cardiac MRI and echocardiographic parameters as biological parameters and overall severity of the disease assessed by MSSI.

The primary purpose of this study was to assess the safety and tolerability of lucerastat in adults with Fabry Disease receiving Enzyme Replacement Therapy (ERT). The secondary objectives were to investigate the effects of lucerastat on plasma and urine levels of biomarkers, to assess its effects on renal and cardiac functions and to determine the pharmacokinetic profile of lucerastat at steady-state.

This was a randomized, double-blind, active control study of the enzyme replacement therapy (ERT) drug PRX-102 (pegunigalsidase alfa) in Fabry disease patients with impaired renal function. Patients who had been treated for approximately 1 year with agalsidase beta and who had been on a stable dose of that product for at least 6 months were randomized in a 2:1 ratio to either switch to PRX-102 or to continue treatment with agalsidase beta. Both treatments were delivered by intravenous infusions every two weeks, at a dosage of 1 mg/kg.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene. It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. The α-Gal A deficiency results in progressive accumulation of un-degraded glycosphingolipids, predominantly globotriaosylceramide (Gb3), within cell lysosomes throughout the body.1 In patients at the fourth to fifth decade, left ventricular hypertrophy occur usually, and myocardial infarction and heart failure develops disease progress. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades.2,3 Fabry disease is treatable with enzyme replacement therapy (ERT). Early recognition of symptoms and diagnosis of patients at a potentially reversible stage of the disease is therefore important. To date, plasma Lyso-Gb3 is useful in the diagnosis of Fabry disease. All male with classical Fabry disease could be discerned by an elevated plasma Lyso-GL-3; All adult female patients have elevated plasma Lyso-GL-3 above normal range.4 Other study also indicated that higher lyso-Gb3 concentrations at first visit were associated with a higher event rate in the past. Men with classical FD have higher Lyso-GL-3 values compared with patients with non-classical FD and women along with an increased risk of developing complications, more severe cardiac and renal disease.5 According to a publication from Taiwan society of cariology (TSOC) expert consensus, several cardiac biomarkers including N terminal pro B type natriuretic peptide (NT-proBNP) and cardiac troponin I/T (cTNI/cTNT) have been proposed to be alternative surrogate markers of cardiac involvement in FD.6However, there is no study to analyze the relationship between all these biomarkers including lyso-Gb3 and FD cardiac manifestation or improvement of cardiac damage outcomes under ERT yet. There is a high prevalence of the cardiac variant (IVS4+919G→A) (~1 in 1600 males) of FD in Taiwan as revealed by newborn screening programs7,8 and patients with idiopathic HCM.9 FD patients with cardiac variant need to fulfill at least two indicators as stated in "cardiac function assessment indicators of Fabry's disease cardiac variant type" with cardiac biopsy confirmed GL3 or lyso-Gb3 lipid accumulation to get local reimbursement for treatment. Cardiac biopsy is an invasive and relative dangerous procedure that some patients would refuse to take this procedure and could not get local reimbursement resulting in delay in treatment. Therefore in the present study the investigators are aiming to identify candidate biomarkers to establish a scoring algorithm for evaluating Fabry disease progression status or treatment response and the investigators could stage patient who with more correlated biomarkers at baseline would have higher risk to develop sever clinical outcome and initiate early therapy.

To evaluate the ongoing safety, tolerability, and efficacy parameters of PRX-102 in adult Fabry patients who have successfully completed treatment with PRX-102 in studies PB-102-F01 and PB-102-F02.

Proteinuria is the predominant risk factor for renal disease progression in Fabry disease (FD). When urine protein excretion is controlled to <0.50 g/24 hr, the rate loss of glomerular filtration rate (GFR) is not significantly different from 0. However, enzyme replacement therapy (ERT) alone does not decrease proteinuria and it has been recommended that patients receiving ERT also receive anti Renin-Angiotensin-System (RAS) therapy. Emerging evidences show that paricalcitol (PCT) reduces proteinuria in presence of intensified inhibition of RAS; however, there is no evidence in FD. The aim of this study is to evaluate the antiproteinuric effect of PCT in FD patients with proteinuria >0.50 g/24 hr persisting despite the ERT and anti-RAS therapy titrated to maximum tolerated dosage.

The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.

The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on the safety and PK of migalastat 150 mg.

Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because alpha-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This trial is designed to evaluate the efficacy of a lower dose of Fabrazyme in patients who initially received 1.0 mg/kg every 2 weeks of Fabrazyme by investigating if the achieved clearance of glycosphingolipid deposits in the vascular endothelium of the kidney can be maintained at a lower dose.