View clinical trials related to Fabry Disease.
Filter by:The purpose of this study was to assess the progression of cardiac involvement in adult patients with Fabry Disease (FD), in the unique Danish Fabry cohort and comparing those FD patients receiving primary therapy vs. those that did not. The hypothesis is, that we will not be able to see a significant positive difference in cardiac involvement in those FD patient who received FD specific therapy vs. those that did not.
The cardiac Fabry disease are early, frequent and severe, dominated by the frequency of left ventricular hypertrophy. They are responsible for a high morbidity and mortality, reducing life expectancy of 15 to 20 years for men. Fabry disease and heart attacks are still diagnosed late. This delay in diagnosis is due to the non-specificity of clinical, electrocardiographic and echocardiographic disease, but also by a certain ignorance of this pathology in the medical community. The importance of early diagnosis of Fabry disease and heart disease is well established: enzyme replacement therapy is most effective when instituted early, before the onset of irreversible damage such as fibrosis. With the blotter, we now have a simple and robust screening tool for Fabry disease, achievable consultation. Targeted educational interventions to physicians have shown their effectiveness in improving the screening and diagnosis of rare diseases. We offer a prospective observational type before / after study, which aims to assess the value of an educational brochure for cardiologists to improve the screening and diagnosis of Fabry disease in Normandy.
Fabry disease is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the enzyme α-galactosidase A (α-Gal A), which leads to a progressive accumulation of globotriaosylceramide (Gb-3) in plasma and tissue lysosomes throughout the body. Lysosomal accumulation can result in lysosomal and cellular dysfunction, which leads to renal, cardiac, and central nervous system (CNS) complications. It is estimated that 1 in 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 in 117,000 people. Newborn screenings for both classical and atypical Fabry disease in Taiwan also revealed a markedly high incidence of 1 in 2,300 and 1 in 3,000 newborns. Cerebrovascular variant Fabry disease may affect up to 4.9% of male patients and 2.4% of female patients with idiopathic stroke. The diagnosis of Fabry disease can be challenging due to the diverse signs and symptoms, different ages of onset, and variable timing and severity of progression. The importance of Fabry disease lies in the irreversible renal, cardiac, cerebrovascular, and neurological damage. An early diagnosis of Fabry disease is important for initiating symptom management and reducing life-threatening complications, as well as for early identification of other affected family members. Therefore, the present study would like to conduct further screening of high-risk group of early cerebrovascular involvement that is essential for the successful management of Fabry disease.
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency. Due to its low prevalence and non-specific symptoms, FD is under-diagnosed. Its estimated incidence is ranged from 1/40,000 to 1/120,000 live births. A review of the international literature suggests a higher prevalence among dialysis patients. Its diagnosis could lead to an enzyme replacement therapy, in order to avoid the occurrence or aggravation of other organs irreversible lesions, and to enhance the familial screening. We aim to conduct a multicentric cross-sectional prevalence study in 5 areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard), involving biologic collection and genetic diagnosis test. Our objective is to measure the prevalence of FD among dialysis patients. Eligible patients will be included after signing the informed consent. In the five participating areas, all of the dialysis centers will be asked for involvement. Nominative data of the French renal epidemiology and information network (REIN) registry will enable first patients screening for eligibility among prevalent dialysis patients. If needed (insufficient or absent data in the REIN registry), data will be completed with medical files. A blood drop will be collected during a hemodialysis session (or the monthly test for peritoneal dialysis treated patients) and deposited on an anonymized blotting paper. For the diagnosis of FD, men will have a measure of the alpha-galactosidase activity, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analysis. If results are compatible with FD, genetic mutation will be search in order to confirm the diagnosis for women, and, for all, to offer familial testing. Results will be transmitted to the nephrologist within the next 2 to 9 weeks. Patients diagnosed with FD will be managed in accordance with the guidelines of the French National Authority for Health (F.N.A.H.).
This is a first-in-human study for the treatment of Fabry disease. Eligible patients will have an autologous stem cell transplantation using CD34+ cells that are transduced with the lentivirus vector containing the human alpha-gal A gene. The researchers of this study would like to see if the re-introduction of transduced cells will help increase the levels of alpha-gal A enzyme levels and to determine the safety and toxicity of autologous stem cell transplantation using CD34+ cells transduced with lentivirus vector containing the alpha-gal A gene. This study's objective is to determine the safety and toxicity of lentivirus alpha-gal A transduced CD34+ cells in adult males with Fabry disease.
Patients will undergo a SmartPill test to gain additional understanding of Fabry disease manifestation via motility abnormalities in order to improve symptom targeted therapy. An additional Endoscopic mucosal resection may be performed on further qualifying patients. Tissue analysis from this biopsy will include evaluation of abnormalities of cellular structure and morphology with correlation with gastrointestinal complaints for each patient and comparison against age matched non-Fabry patient tissue. The hypothesis is that patients with fabry disease will have abnormal motility which will correlate with the patients symptoms and quality of life as noted on the questionnaires.
This was a randomized, double-blind, active control study of the enzyme replacement therapy (ERT) drug PRX-102 (pegunigalsidase alfa) in Fabry disease patients with impaired renal function. Patients who had been treated for approximately 1 year with agalsidase beta and who had been on a stable dose of that product for at least 6 months were randomized in a 2:1 ratio to either switch to PRX-102 or to continue treatment with agalsidase beta. Both treatments were delivered by intravenous infusions every two weeks, at a dosage of 1 mg/kg.
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood
Screening of Fabry disease in end-stage renal disease (ESRD) patients on dialysis or transplant in west of France.
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events. To test this hypothesis the investigators aim to compare platelet and plasma lipid profiles, as well as platelet function and coagulation parameters of FD patients and healthy controls.