View clinical trials related to Fabry.
Filter by:In Fabry disease (FD), α-galactosidase A deficiency leads to the accumulation of globotriaosylceramide (Lyso-Gb3 and Gb3), triggering a pathologic cascade that causes progressive damage to multiple organs, including the heart. The heart is one of the organs that is very sensitive to the deficiency of α-galactosidase A. There is a subgroup of patients with significant residual α-galactosidase activity and a phenotype with primary cardiac involvement, occasionally referred as "cardiac variant." The manifestations of cardiac involvement in FD are left ventricular hypertrophy (LVH), diastolic dysfunction, microvascular angina. Cardiac hypertrophy is the most common cardiac pathology and cause of death in patients with FD. The elevation of the inflammatory markers strongly demonstrates that chronic inflammation drives the cardiovascular pathophysiology in FD. Moreover, plasma TNF, TNFR2, Il-6 specifically elevated in FD patients with cardio hypertrophy. The chronic inflammation in combination with elevated Lyso-Gb3 further drives the FD progression even under therapy. The expression of the endothelial-cardiomyocyte growth factors will change in response to chronic inflammation during the development of cardiac hypertrophy. This is a clinical observational study designed to identify the role of inflammatory signaling markers and secreted growth factors in the progression of cardiac pathology in FD
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in cardiomyocytes. Apart from family screening, left ventricular hypertrophy is an important factor in the diagnosis of Fabry disease. This left ventricular hypertrophy is more often concentric and homogeneous, but it can also be asymmetric and mimic the patterns seen in so-called familial hypertrophic cardiomyopathies caused by mutations in the sarcomere protein genes. Electrocardiogram has been suggested as a screening tool for Fabry disease. Analysis of the PQ interval would be of interest. An algorithm has even been proposed to differentiate Fabry disease from amyloidosis with excellent sensitivity and specificity. The only criterion of left ventricular hypertrophy used in all studies is the Sokolov-Lyon index, but this index has many limitations and does not appear to be discriminatory for Fabry disease. Other validated criteria for left ventricular hypertrophy, such as the Cornell, Lewis, Gubner index or the Romhilt-Estes point score, have never been tested in Fabry disease. The primary objective of our study is to evaluate the diagnostic value of different electrocardiographic scores of left ventricular hypertrophy in Fabry disease.
The rational of the study is to try to predict which of the patients who suffer from Fabry disease will have End Stage Renal Disease. We hope to find correlation between certain modifier genes, previously related to renal disease, to renal disease in Fabry.