View clinical trials related to Fabry Disease.
Filter by:Fabry disease is a rare disorder that often has kidney involvement with increased urine protein excretion. Proteinuria is recognized as an important risk factor for progression of chronic kidney disease. Our hypothesis is that using drugs that reduce urine protein excretion (ACE inhibitors and ARBs) will have a beneficial effect on patients with Fabry disease who already are receiving enzyme replacement therapy. A longitudinal, observational study is being undertaken to determine the utility of these agents in Fabry disease, realizing that these agents are primarily indicated for reducing systemic blood pressure, and most patients with Fabry disease have relatively low blood pressures at baseline.
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) and how migalastat works in participants with Fabry disease.
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
The purpose of this survey is to identify any concerns regarding the following efficacy and safety-related issues in clinical practice with the new drugs "Fabrazyme for intravenous infusion 5mg" and "Fabrazyme for intravenous infusion 35mg" and to confirm the safety of these products in long-term use in the clinical setting. 1. New adverse drug reactions (ADRs) that cannot be predicted from the Precautions (in particular, clinically significant ADRs) 2. The incidence of ADRs under the actual conditions of use of the drug 3. Causal factors that might potentially affect safety 4. Efficacy evaluation in long-term use This survey will be conducted in accordance with the approval condition established for Fabrazyme: "To conduct a special surveillance of Efficacy and Safety in long term treatment and Pediatric with the drug."
Study to evaluate the safety, tolerability, pharmacokinetics, 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.
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. An early sign of the disease is painful small fibre neuropathy presenting in two forms: 1. a constant burning sensation in the hand and feet and 2. Fabry crises consisting of attacks of excruciating pain. Given the X-linked inheritance, male patients are severely affected. Recently attention has been drawn to female patients whether they also show signs of nerve involvement. The purpose of this study is to evaluate the small fibre neuropathy in female Fabry patients. Correlation with X-chromosome inactivation will be attempted. Recombinant human α-galactosidase A is now available for patients. A part of this study is evaluation the long term efficacy of enzyme replacement therapy in female patients with Fabry disease and neuropathy. Male family members with Fabry disease will be examined.
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry disease. Participants participated for 4 weeks or less in the baseline period and 156 weeks for the treatment period.
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001. Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A, which normally breaks down fatty substances called glycolipids, is missing or does not function properly. As a result, glycolipids accumulate in various tissues, causing liver, kidney, nerves, skin, muscle and blood vessel problems. No treatment is given in this survey study. Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study. Participants undergo the following tests and procedures over 5 days: Day 1 Medical history and physical examination, blood tests, electrocardiogram (EKG), routine urinalysis, measurements of height, weight, and vital signs (blood pressure, heart rate, breathing rate, and temperature). Day 2 Blood tests, 24-hour urine collection, vital signs and sweat test. The sweat test (also called QSART, or quantitative sudomotor axon reflex test) measures the amount of sweat in a particular area of skin. A small amount of medication called acetylcholine is put on an area of the skin and a small electric current is applied to stimulate the sweat glands. Day 3 Blood tests, 24-hour urine collection, vital signs, and skin biopsy. For the skin biopsy, a small area of skin is numbed and a punch device is used to remove a 3-mm (1/8-inch) layer of skin for microscopic examination. Day 4 Blood tests, 24-hour urine collection, vital signs, and QSART. Day 5 Blood tests and vital signs. In addition to the above, patients are scheduled at some point in the 5-day study for an eye examination, brain magnetic resonance angiogram (MRA), and a heart examination and echocardiogram. MRA uses a strong magnetic field and radio waves to provide images of the blood vessels in the head and neck. It can detect abnormalities such as aneurysms, vessel malformations, and thickening of the vessel walls. An echocardiogram is an ultrasound test that shows how well the heart pumps blood and if there is thickening of the heart muscle. Patients who are taking enzyme replacement therapy discontinue treatment for up to 6 weeks (no more than two missed infusions) to allow accurate measurement of the amount of alpha-galactosidase A the patient's body produces by itself. They provide weekly blood samples between the time they stop treatment and enter the study. The samples are used to monitor the removal of the enzyme from the body and the possible buildup of Gb(3) in the blood.