Clinical Sites

This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.

This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.

This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.

This proposal aims to study the natural history and ERT effect on cardiac and vascular tissue in Fabry disease using unbiased quantitative validated morphometric approaches with functional and imaging correlations. These studies will substantially improve our understanding of the pathophysiology of cardiovascular and renal complications in Fabry and can introduce new approaches to quantify treatment response in cardiomyocytes and arteriol smooth muscle cells, with potential application in clinical trials and at the bedside. In addition to these histomorphometric studies, we propose to study autonomic dysfunction, a common complication in FD patients that is not well characterized, and the effect of ERT on this complication. The novel nature of this study lies in the analysis of tissues samples in a heretofore unused method that correlates tissue analysis with medical data to make determinations of kidney, cardiac, and skin tissue damage in Fabry disease.