People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid ("globatriaosylceramide" or "GL-3") levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study will test the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
58
Cedars-Sinai Medical Center
Los Angeles, California, United States
University of California San Fransisco
San Francisco, California, United States
Northwest Oncology & Hematology Associates
Coral Springs, Florida, United States
Children's Memorial Hospital
Chicago, Illinois, United States
University of Iowa Hospital and Clinics
Iowa City, Iowa, United States
Greater Baltimore Medical Center
Baltimore, Maryland, United States
Beth Israel Deaconess Medical Center
Boston, Massachusetts, United States
Fetal Diagnostic and Imaging Center
Billings, Montana, United States
University of New Mexico
Albuquerque, New Mexico, United States
Mount Sinai School of Medicine
New York, New York, United States
...and 10 more locations
Safety and efficacy
Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney
Changes in McGill Pain Questionnaire
Autonomic status
Glomerular filtration
Functional assessment of urinary protein excretion Ophthalmic changes
SF-36 Health Survey
Physician's assessment of Fabry Symptoms and pain medication
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