Vasodilation in Patients With Fabry's Disease
Information source: National Institutes of Health Clinical Center (CC)
Information obtained from ClinicalTrials.gov on June 20, 2008
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Cerebrovascular Accident; Fabry Disease; Healthy
Phase: N/A
Status: Completed
Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Summary
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme
alpha-galactosidase A. The disease is characterized by abnormal collections of glycolipids
in cells (histiocytes) within blood vessel walls, tumors on the thighs, buttocks, and
genitalia, decreased sweating, tingling sensations in the extremities, and cataracts.
Patients with Fabry 's disease die from complications of the kidney, heart, or brain.
The objective of this study is to test the belief that patients with Fabry's disease have a
problem with blood vessels becoming larger. The walls of blood vessels contain muscles that
when they relax the vessel becomes larger. This process is referred to as vasodilation. It
is controlled by a substance released by cells in blood vessels called EDRF
(endothelium-derived relaxing factor).
Several drugs can affect vasodilation. Researchers believe some drugs may work by blocking
the affect of EDRF. Researchers would like to test the effects of these drugs on the blood
vessels of normal volunteers and patients with Fabry's disease.
Clinical Details
Official title: An Investigation of Endothelium-Derived Vasodilation in Patients With Fabry's Disease
Study design: N/A
Detailed description:
Fabry disease is a systematic genetic disease in which patients have abnormal blood vessels,
and leads to numerous complications including cerebrovascular strokes. The objective of this
study is to test the hypothesis that patients with Fabry disease have abnormal
endothelial-derived vasodilation. If found to be abnormal, endothelial-derived vasodilation
will serve as a useful clinical outcome measure in the evaluation of the efficacy of specific
treatment of Fabry disease, and possibly of other causes of cerebrovascular stroke. The
endothelium modulates vascular tone by the release of contracting and relaxing substances
that act on the underlying smooth muscle. It has been previously demonstrated that patients
with essential hypertension have a blunted vascular response to acetylcholine (an
endothelium-dependent vasodilator). In the present study, we shall analyze the regional
vascular responses to acetylcholine and sodium nitroprusside alone, and in the presence of
L-NMMA (an inhibitor of the synthesis of EDRF by endothelial cells) in 12 patients with Fabry
disease and 12 normal age matched control subjects. We will infuse drugs into the brachial
artery and will measure the responses of the forearm vasculature by means of strain gauge
plethysmography. Forearm blood flow and vascular resistance at baseline and after infusion
of vasoactive drugs, in Fabry patients, will be compared to the responses obtained in the
healthy control population. This study will be performed with collaboration of Dr. Julio A.
Panza, Senior Clinical Investigator from the Cardiology Branch, NHLBI.
Eligibility
Minimum age: N/A.
Maximum age: N/A.
Gender(s): Male.
Criteria:
Male patients with the classic form of Fabry disease, aged 18-50.
Normal male volunteers of the same approximate age will be included as a control.
No patients or volunteers with hypertension, hypercholesterolemia, diabetes, peripheral
vascular disease, coagulopathy, or any other disease predisposing to vasculitis or
Raynaud's phenomenon.
No volunteers who are taking any kind of medication.
Must be able to give informed consent.
Locations and Contacts
National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland 20892, United States
Additional Information
Related publications: Panza JA, Quyyumi AA, Brush JE Jr, Epstein SE. Abnormal endothelium-dependent vascular relaxation in patients with essential hypertension. N Engl J Med. 1990 Jul 5;323(1):22-7. Casino PR, Kilcoyne CM, Quyyumi AA, Hoeg JM, Panza JA. The role of nitric oxide in endothelium-dependent vasodilation of hypercholesterolemic patients. Circulation. 1993 Dec;88(6):2541-7.
Starting date: October 1997
Ending date: October 2000
Last updated: March 3, 2008
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