Establishment of Biomarkers for Fabry Disease
Completed
Conditions studied: Fabry Disease
In brief
Fabry disease, an x-linked recessive lysosomal storage disease (LSD) is commonly recognized as a cause of renal failure in involved men and more recently recognized in women too. Women are involved in significant numbers and with complications, as are men, of vascular disease. This manifests as unexpected strokes in young adults. We have morphologic evidence that storage-endotheliopathy induced microvascular disease is the cause of cardiopathy and of cryptogenic strokes, and that storage endotheliopathy starts in early life, probably before birth. Based on our earlier work with other endotheliopathies such as diabetes mellitus, Susac syndrome, and hypertension, we will find and study patients using unique methods, neuro-retinal fluorescein angiography (NRFA), that we have developed for this purpose. These methods include NRFA to demonstrate capillary perfusion in the optic nerve head and retinal quadrants. We anticipate, based on our earlier experience with other endotheliopathies, that we will show more vascular pathology earlier than previously reported. Using epidemiologic and genetic tools we will find more patients than previously known or expected. It will offer opportunity for earlier diagnosis, prognosis, and response to enzyme replacement therapy. We hypothesize that Fabry disease is a poorly recognized and poorly characterized cause of microvascular disease and cryptogenic strokes in young women and men. Neuroretinal capillary perfusion abnormalities in Fabry disease will be predictive of equivalent vascular disease in kidney, heart, brain and other organs, and further that it will be responsive to change induced by enzyme replacement therapy treatment.
Key facts
- Study ID
- NCT01165697
- Run by
- Ohio State University
- People needed
- 4
- Starts
- 2010-07-01
- Expected to finish
- 2014-12-01
- Last updated by the study team
- 2017-01-13
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Fabry patient
- evidence of angiopathy (renal, cardiac, or ocular)
- Patients above the age of 18
You may not qualify if…
- Patients unable or unwilling to provide written informed consent will not be recruited
- Patients who are below the age of 18
- Patients who have not or will not be undergoing Fluorescein angiography
- Allergy to fluorescein
- Pregnant women and fetuses are exclude from the study due to risks related to fluorescein and no direct benefit to the pregnant woman and fetus
Where it is running
- Eye and Ear Institute — Columbus, Ohio, United States
Full record on ClinicalTrials.gov
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