View clinical trials related to Fabry Disease.
Filter by:Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease, conduction disorder, coronary heart disease) and cerebral vascular (stroke) symptoms . It is a glycosphingolipid metabolism disorder due to deficient or absent activity of the alpha-galactosidase A, causing accumulation of globotriaosylceramide in the lysosomes. The incidence is estimated being 1/40 000. Some patients suffering from Fabry's disease today are of childbearing age and their multidisciplinary care (by neurologists, obstetricians and anesthetists) raises several questions. About the anesthetic, the question of epidural block is debated in patients with neurological diseases and recommendations are not unequivocal. Indeed one of the problems of the management in those conditions is the potential worsening of the disease because of the anesthetic procedure. In addition, the possibility of an antiplatelet and / or an anticoagulant treatment in these patients may also contre-indicate an epidural block. The rate of epidural block achieved in patients with Fabry's disease is not currently known. Moreover, only sparse data on pregnancy outcomes in these patients are reported.
Primary Objective: To assess the long-term safety of GZ/SAR402671 in adult male participants with Fabry disease who previously completed study ACT13739 (NCT02489344). Secondary Objective: To assess the long-term effect of GZ/SAR402671 on pharmacodynamic and exploratory efficacy endpoints in adult male participants with Fabry disease who previously completed study ACT13739.
The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR.
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection of one of these organs. Acroparesthesias and chronic crises of pain of different origins are reported in the large majority of patients during the progression of the disease. Moreover, this signs are frequently inaugurating the disease. The investigators have previously performed a preliminary single-center study which permitted to identify one female patient with Fabry disease in a series of 147 consecutive patients with chronic pain tested. The investigators now propose to confirm the results of our preliminary study. The investigators plan to evaluate the prevalence of Fabry disease in a series of 1000 patients suffering from chronic pains of undetermined aetiology and consecutively recruited.
Primary Objective: To assess the safety, pharmacokinetics (PK), pharmacodynamics (PD), and exploratory efficacy of GZ/SAR402671 in enzyme replacement therapy treatment-naïve adult male participants diagnosed with Fabry disease.
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study. The study assessed the long-term safety and effectiveness of migalastat HCl.
The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
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 evaluate the safety, tolerability, and pharmacokinetics of IV migalastat HCl alone and to determine absolute bioavailability for oral migalastat HCl as compared to IV administered migalastat HCl in healthy volunteers. The data from this study will help us understand how migalastat works in the body and will help us determine what would be an effective dose in future studies with migalastat hydrochloride.