Vasodilation in Patients With Fabry's Disease

NCT00001774 | Completed

• 2 other identifiers: 98001398-N-0013
• Study Type: observational
• Target: 48
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Cerebrovascular Accident; Fabry Disease; Healthy

Keywords

Acetylcholine; Blood Flow; Blood vessel; Resistance; Sodium Nitroprusside; Fabry Disease; Normal Volunteer

Eligibility Criteria

• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• 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. doi: 10.1056/NEJM199007053230105.

  PMID: 2355955 BACKGROUND

• 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. doi: 10.1161/01.cir.88.6.2541.

  PMID: 8252665 BACKGROUND

MeSH Terms

Conditions

Stroke; Fabry Disease

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Cerebral Small Vessel Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: October 1, 1997
• Study Completion: October 1, 2000
• Last Updated: March 4, 2008

Record last verified: 1999-11

Locations

US (1)