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Research Studies

How do I learn more about current open studies?

Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.

How do I participate in a study?

Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.

Showing All Ongoing LDN Studies


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.

LDN Research Study 6713, "A Natural History of the Gangliosidoses," remains open to enrollment but is funded by mechanisms outside of the RDCRN. Please contact Dr. Jeanine Jarnes ( for more information.