Vasodilation in Patients With Fabry's Disease

March 3, 2008 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

An Investigation of Endothelium-Derived Vasodilation in Patients With Fabry's Disease

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment

48

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institute of Neurological Disorders and Stroke (NINDS)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

Male

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 1997

Study Completion

October 1, 2000

Study Registration Dates

First Submitted

November 3, 1999

First Submitted That Met QC Criteria

December 9, 2002

First Posted (Estimate)

December 10, 2002

Study Record Updates

Last Update Posted (Estimate)

March 4, 2008

Last Update Submitted That Met QC Criteria

March 3, 2008

Last Verified

November 1, 1999

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 980013
  • 98-N-0013

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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