Active clinical trials for "Fabry Disease"

The purpose of this study was to assess the progression of cardiac involvement in adult patients with Fabry Disease (FD), in the unique Danish Fabry cohort and comparing those FD patients receiving primary therapy vs. those that did not. The hypothesis is, that we will not be able to see a significant positive difference in cardiac involvement in those FD patient who received FD specific therapy vs. those that did not.

The objective of this study is to investigate whether Agalsidase alpha, a drug commonly prescribed in patients with Fabry disease, is associated with improvement of the pulmonary involvement. According to the Global Initiative for Obstructive Lung Disease (GOLD), the surrogate markers for obstructive lung diseases are a decrease in both forced expiratory volume in one second (FEV1) and FEV1/FVC ratio, whereas FVC is the forced vital capacity. However, the measurement of these lung function parameters is indicated as yearly follow-up examinations with or without the treatment of Agalsidase alpha in patients with Fabry disease.

The purpose of this study is to determine the prevalence of Fabry mutations in patients with left ventricular hypertrophy (moderate to severe), as measured by echocardiography.This study is a screening study

This study is a prospective active comparator study to assess the immune response elicited by human recombinant agalsidase therapy in subjects who are switching from agalsidase alfa to agalsidase beta with Fabry disease. Fabry disease is an X-linked lysosomal storage disorder, due to deficient alpha-galactosidase A activity. The progressive accumulation of globotriaosylceramide (GL-3) in the lysosomes of the vascular endothelial cells of multiple organ systems like the kidneys, heart, skin, and brain, leads to a microvascular disease. In Fabry disease, nephropathy dominates and renal function impairment occurs as a result of accumulation of GL-3 in renal cells

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®).

This study aims to evaluate the prevalence of Fabry Disease (FD) among a cohort of high risk patients with left ventricular hypertrophy (LVH) presenting at the University Hospital Würzburg over the last 20 years. Fabry disease is a rare disease that is known to be consistently underdiagnosed due to its largely variable symptoms. Considering that an early Fabry diagnosis is crucial for maximum benefit from therapies available, screening for Fabry patients can contribute to preventing development and worsening of symptoms in Fabry patients with LVH. In addition, a positive diagnosis in a family member opens the possibility to diagnose further family members in an earlier stage of the disease, therefore allowing treatment of symptoms and organ manifestations before they become irreversible.

The purpose of this study is to determine the incidence of Fabry Disease in young stroke patients in an Israeli stroke clinic.

More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years. Usually, these cannot be explained by the classical risk factors such as diabetes, overweight and high blood pressure. New studies indicate that in about 1 - 2 % of the younger stroke patients the cause could have been an undiagnosed genetic disease, the so called Fabry disease. The purpose of this study is to determine in a large number of young stroke patients, how many strokes were caused by Fabry Disease.

This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events. To test this hypothesis the investigators aim to compare platelet and plasma lipid profiles, as well as platelet function and coagulation parameters of FD patients and healthy controls.

Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular, is a project designed as a pilot study of Centre for Fabry disease, General University Hospital in Prague, and Clinical Centre ISCARE Prague, focused on improving the diagnosis and care of patients with Fabry disease in the Czech Republic. Fabry disease, (FD) is an X-linked inherited, rare, progressive disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. The earlier diagnosis is made the earlier treatment is started the better outcome patients have. There are screening programs in cardiology, nephrology, neurology or ophtalmology fields. But not only cardiovascular, renal or eye symptoms are present. Very common are also GI symptoms in Fabry disease patient population. This is the first screening of FAbry disease in GI symptom patients.