View clinical trials related to Fabry Disease.
Filter by:This is a multinational, long-term follow-up study to assess the long-term safety and durability of AVR-RD-01 treatment in participants who received a single dose administration of lentiviral gene therapy in Study AVRO-RD-01-201 (treatment study). No investigational product will be administered in this study. Participants will continue periodic safety and efficacy assessments in this long-term follow-up study up to 15 years from AVR-RD-01 gene therapy infusion.
The main aim of the study is to assess the safety of REPLAGAL. Study participants will receive REPLAGAL as an intravenous infusion every other week for 52 weeks. Participants will visit their study clinic many times throughout the study.
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
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.
GROUND study is an Italian, multicenter retrospective longitudinal cohort study with a cross-sectional phase with the aim to quantify the severe clinical burden in terms of severe and fatal outcomes and extension of clinical impairment in the Italian Fabry Disease patients' population
Introduction: Heart failure with preserved systolic function encompasses several different diseases, but which have diastolic dysfunction and its components in common: myocardial stiffness and altered relaxation. Myocardial stiffness represents an important parameter for diagnosis and prognosis, but only changes in relaxation are evaluated in clinical practice. Cardiac elastography has been proposed as a diagnostic modality for noninvasive assessment of myocardial stiffness. Objective: The aim of our study is to investigate the potential of myocardial elastography by shear waves to assess myocardial stiffness by non-invasively quantifying diastolic myocardial elasticity (EMD) in Fabry disease (DF) and cardiac amyloidosis (AC ) in the ATTRh form and correlate with other complementary imaging and laboratory tests (electrocardiogram, 2D echocardiogram, troponin and BNP) and with a 6-minute walk test and quality of life questionnaires. Material and methods: 60 adults will be prospectively included: 20 patients with Fabry disease, 40 patients with hRTRT (20 with cardiac involvement) and 20 patients as a control group. Echocardiography, electrocardiogram and laboratory evaluations will be performed. The elastocardiographic assessment of myocardial stiffness will be performed in ultrasound equipment (Canon, Aplio i800) using a multifrequency convex transducer, under specific adjustment of the equipment to perform myocardial elastography.
This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: 1. Early diagnosis, follow-up, and prediction of treatment response. 2. Suggestion about the optimal time to start treatment. 3. The data obtained will help to deepen our knowledge of the correlation among Lyso-Gb3, genotype and phenotype. 4. Better understanding of the pathophysiology of FD. To sum up, the results of the study will make a significant contribution to scientific knowledge providing new evidence with an immediate clinical application in FD patients. As well as, the project will serve as the basis for a large-scale project implementation to validate the results obtained
In this study, adults with Fabry Disease who have not had any treatment for this condition will be treated with Replagal. The main aim of the study is to check if Replagal improves kidney function and heart structure of participants with Fabry Disease. Participants will receive one Replagal infusion every other week for up to 104 weeks. They will visit the clinic every 12 to 14 weeks during treatment with a follow-up visit 2 weeks after treatment.
Fabry Disease (FD) is a rare lysosomal storage disorder due to the absence or deficiency of hydrolase α-galactosidase A (α-Gal A) activity in lysosomes. This dysfunction results in progressive accumulation of glycosphingolipids in a wide variety of cells, resulting in major organ system damage. Patients with Fabry disease can suffer from neuropathic pain, since lysosomal accumulation affects small unmyelinated nerve fibers. Neuropathic pain is one of the prominent and debilitating symptoms significantly interfering with life quality in FD patients. Current treatment of Fabry patients with neuropathic pain is deficient, as they respond poorly to a conventional pain therapy, often require a high-dose opioids treatment and presentation to the Emergency Department. Sativex® has been shown to be a successful treatment option in neuropathic pain of different origin with minimal neuropsychological influence: in multiple sclerosis (MS), chemotherapy-induced neuropathic pain and other. It contains Δ-9-Tetrahydrocannabinol (THC) and Cannabidiol (CBD) and has recently been licensed in Switzerland for treatment of neuropathic chronic pain in MS. Sativex® is an oral spray.