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Active clinical trials for "Fabry Disease"

Results 111-120 of 204

Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study.

Fabry Disease

Prospective, observational cohort study to investigate the prevalence of sleepiness and sleep-related breathing disorders in patients with Fabry disease (FD). For this, an Epworth Sleepiness Score (ESS) and ambulatory overnight respiratory polygraphy (oRP) is obtained in all subjects.

Completed2 enrollment criteria

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Small Fiber NeuropathyFabry Disease2 more

Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can be performed non-invasively, quickly and effectively. The investigators aim to study the use of Sudoscan in rare disease condition associated with small fiber polyneuropathy.

Completed15 enrollment criteria

Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry...

Fabry Disease

The study will be a randomized, double blind, placebo-controlled study of the safety and efficacy of PRX-102 in ERT naïve male patients randomized 1:1. Patient age will be 14 to 45 years. Patients must have diarrhea defined as ≥ 3 stools a day with an average consistency of ≥ 5.5 on the Bristol Stool Form Scale (BSFS) by patient electronic diary and moderate to severe gastrointestinal symptoms as defined by the Irritable Bowel Symptom Severity Score (IBSSS) Part 1 average > 175 derived from at least two IBSSS assessments during screening period. Patients will receive intravenous infusions of PRX-102 1 mg/kg or placebo every two weeks for 6 months.

Withdrawn20 enrollment criteria

Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease

Fabry DiseaseNeuropathic Pain

The purpose of this study is to determine efficacy of gabapentin vs. placebo at controlling peripheral neuropathic pain in patients with Fabry disease, and reducing their use of opioid analgesics. The investigators are conducting a randomized, double-blind, placebo controlled, single center, cross-over study. The primary endpoint is percent reduction in patients' use of hydrocodone-acetaminophen.

Withdrawn7 enrollment criteria

A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of...

Fabry Disease

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globotriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study is designed to verify that no loss of Fabrazyme occurs during simultaneous Fabrazyme infusion and hemodialysis in patients currently receiving Fabrazyme at a dose of 1.0 mg/kg every 2 weeks.

Withdrawn13 enrollment criteria

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain

Fabry's DiseaseChronic Pain

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.

Completed4 enrollment criteria

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains

PainFabry's Disease

Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy, renal failure and neurological signs including chronic pain and peripheral neuropathies are the most frequent signs. The availability of two enzymatic replacement therapies now provides a specific and effective treatment for patients. The prevalence of FD is estimated between 1/40,000 and 1/117,000. The frequency of Fabry disease has previously been estimated in several series of patients presenting one single sign, ie renal failure, hypertrophic myocardiopathy and early onset stroke. However, no data are available about the prevalence of FD in populations of patients suffering from chronic pains of unknown origin. The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Lidove et al. 2007). The patients in whom the diagnosis of FD is established during this study, will be call in for an additional visit in the Investigating Centre in order to confirm the diagnosis and propose suitable assessment and care.

Completed9 enrollment criteria

Early Detection of Fabry Disease

Fabry Disease

The main aim of this study is early detection of FD using real-world data for the development of advanced natural language processing methods and to develop a predictive algorithm and to measure the performance of the algorithm in identifying participants with FD. This study is about using data from hospital Electronic Health Record database from the last 10 years to describe the ranking of participants with FD using multilevel likelihood ratios and to validate the algorithm using positive controls. No investigational medicinal product or device will be tested in this study. Hospital electronic health record data will be analyzed for a period of up to 6 months.

Not yet recruiting2 enrollment criteria

To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme)...

Fabry Disease

Primary Objective: To assess reduction of plasma lyso-GL3 level after switch to agalsidase beta from agalsidase alfa Secondary Objectives: To assess reduction of kidney podocyte GL3 content after switch to agalsidase beta from agalsidase alfa To assess reduction of GL3 content in endothelial skin cells after switch to agalsidase beta from agalsidase alfa To assess change in renal function after switch to agalsidase beta from agalsidase alfa To assess disease severity and clinical changes after switch to agalsidase beta from agalsidase alfa To assess improvement in symptoms of Fabry disease after switch to agalsidase beta from agalsidase alfa

Withdrawn25 enrollment criteria

Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease...

Fabry Disease

Six patients with Fabry disease will be recruited. Patients will receive a single dose of 0.2 mg/kg recombinant human alpha-galactosidase A produced in moss (moss-aGal) as intravenous infusion. Patients will be hospitalized during the infusion and for at least 24 hours after the end of the infusion. Treatment will be administered sequentially: if a patient shows no safety concerns on the treatment day, treatment of the next patient will commence on the following day.

Completed28 enrollment criteria
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