Abstract

Fabry disease is a rare hereditary disorder which causes a deficiency of the enzyme a-galactosidase A. This enzyme is responsible for the breakdown and elimination of glycolipids. When a-galactosidase A is lacking, these glycolipids build up in various tissues such as the eye, liver, kidney, skin, muscle, heart, and blood vessels. The build up of glycolipds is thought to cause the clinical symptoms of Fabry disease. Patients with Fabry disease suffer from chronic damage to their kidney and heart as well as episodes of often severe pain. There is currently no specific treatment for Fabry disease available. In this study, patients with Fabry disease will receive an intravenous infusion of the enzyme a-galactosidase A or placebo every two weeks for six months.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000425-31
Application #
6407245
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
1977-12-01
Project End
2001-11-30
Budget Start
Budget End
Support Year
31
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
La Biomed Research Institute/ Harbor UCLA Medical Center
Department
Type
DUNS #
City
Torrance
State
CA
Country
United States
Zip Code
90502

  Publications

Sharma, Shilpa; Mehta, Puja K; Arsanjani, Reza et al. (2018) False-positive stress testing: Does endothelial vascular dysfunction contribute to ST-segment depression in women? A pilot study. Clin Cardiol 41:1044-1048
Shufelt, Chrisandra; Manson, Joann (2018) Managing Menopause by Combining Evidence With Clinical Judgment. Clin Obstet Gynecol 61:470-479
Cherukuri, Lavanya; Smith, Michael S; Tayek, John A (2018) The durability of oral diabetic medications: Time to A1c baseline and a review of common oral medications used by the primary care provider. Endocrinol Diabetes Metab J 2:
Nicholls, Stephen J; Tuzcu, E Murat; Wolski, Kathy et al. (2018) Extent of coronary atherosclerosis and arterial remodelling in women: the NHLBI-sponsored Women's Ischemia Syndrome Evaluation. Cardiovasc Diagn Ther 8:405-413
Wei, Janet; Bakir, May; Darounian, Navid et al. (2018) Myocardial Scar Is Prevalent and Associated With Subclinical Myocardial Dysfunction in Women With Suspected Ischemia But No Obstructive Coronary Artery Disease: From the Women's Ischemia Syndrome Evaluation-Coronary Vascular Dysfunction Study. Circulation 137:874-876
Elboudwarej, Omeed; Wei, Janet; Darouian, Navid et al. (2018) Maladaptive left ventricular remodeling in women: An analysis from the Women's Ischemia Syndrome Evaluation-Coronary Vascular Dysfunction study. Int J Cardiol 268:230-235
Shufelt, Chrisandra; Bairey Merz, C Noel; Pettinger, Mary B et al. (2018) Estrogen-alone therapy and invasive breast cancer incidence by dose, formulation, and route of delivery: findings from the WHI observational study. Menopause 25:985-991
Mehta, Puja K; Hermel, Melody; Nelson, Michael D et al. (2018) Mental stress peripheral vascular reactivity is elevated in women with coronary vascular dysfunction: Results from the NHLBI-sponsored Cardiac Autonomic Nervous System (CANS) study. Int J Cardiol 251:8-13
Kim, Se-Min; Cui, Jinrui; Rhyu, Jane et al. (2018) Association between site-specific bone mineral density and glucose homeostasis and anthropometric traits in healthy men and women. Clin Endocrinol (Oxf) 88:848-855
Nakanishi, Rine; Baskaran, Lohendran; Gransar, Heidi et al. (2017) Relationship of Hypertension to Coronary Atherosclerosis and Cardiac Events in Patients With Coronary Computed Tomographic Angiography. Hypertension 70:293-299

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