View clinical trials related to Fabry Disease.
Filter by:We hypothesize that Fabry disease - FD is associated with elevated vascular resistance induced by cerebral small-vessel disease, indicating increased distal resistance to blood flow. The findings of this study may be used as a precursor for neuroimaging manifestations related to stroke in FD patients.
Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by an abnormal gene encoding the α-galactosidase A (αGLA) enzyme. The αGLA enzyme is ubiquitously expressed throughout the body and is responsible for the breakdown of glycosphingolipids, deficiency of which results in the accumulation of specific glycosphingolipids that are associated with the pathophysiology of the disease. Current treatment for Fabry disease is limited to the symptomatic management of pain, conventional management of complications, and methods to increase the availability of functional αGLA. This clinical study aims to investigate the long-term safety and durability of αGLA in patients who have been dosed with a new gene therapy product (FLT190) in earlier clinical studies.
This is an international, non-interventional research study of adult patients with Fabry Disease and their caregivers. The study will comprise a prospective time and motion evaluation and a cross-sectional evaluation of patient and caregiver-reported outcomes. The study will evaluate the time associated with the preparation and administration of a single dose of ERT in patients by health care providers as well as the impact on Fabry patients and caregivers time and costs associated with an ERT treatment. The study will also evaluate the patients' quality of life wellbeing, fatigue and work productivity.
The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.
A quasi-experimental, prospective clinical trial with pre and post intervention measurements, whose porpuose is assess the efficacy of a therapeutic exercise protocol to treat neuropathic pain in Fabry Disease.
In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician. A specific questionnaire addressing needs and expectations of Fabry patients has been built at the initiative of Amicus. In addition, this questionnaire also evaluates the benefit of treatment from the patient's perspective. Nothing is known until now on patient's expectations, potential clustering of patients regarding their expectations and evaluation of treatment benefit from the patients perspective. Study objectives are differentiated according to the study phase (inclusion and follow-up). At inclusion, the primary objective is to cluster patients according to their needs and expectations regarding treatment. During follow-up, the primary objective is to evaluate treatment benefit in relation with patients needs and expectations.
Anderson-Fabry Disease (AFD) is one of the rare lysosomal storage disorders for which a cause - specific therapy is available. Recently, a new specific drug has been marketed, namely Migalastat, a small-molecule pharmacological chaperone. The effect of Migalastat on cardiac involvement has been assessed so far by 2D echocardiography, demonstrating a significant reduction in left ventricular (LV) mass after 18 months of therapy. Calculation of LV mass by 2D echocardiography is limited by geometrical assumptions and quality of echocardiographic window, with a strong impact on accuracy. Cardiac Magnetic Resonance (CMR) overcomes these limitations, thus representing the gold standard technique for ventricular mass, volumes and function estimation. Moreover, CMR offers the unique possibility to perform a non-invasive tissue characterization, including the detection of both myocardial fibrosis by Late Gadolinium Enhancement and sphingolipid storage by T1 mapping. Beyond an accurate morphological description and a detailed tissue characterization, a complete cardiological assessment should also integrate functional data and bio-humoral profile. This study is designed to provide a comprehensive evaluation of the therapeutic effect of Migalastat (123 mg every other day) on cardiac involvement after 18 months of therapy, integrating a morphological, functional and bio-humoral assessment.
The purpose of this research project is: - to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD - to use fMRI to identify altered brain function - to use FBFI and fMRI together to map altered connectivity in response to brain lesions
This was an open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric participants 12 to <18 years of age with Fabry disease and amenable gene encoding α-galactosidase A (GLA) variants.
This study aimed to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease.