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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Fabrazyme (agalsidase beta) | Drug |
| Measure | Description | Time Frame |
|---|---|---|
| Safety and efficacy | ||
| Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in McGill Pain Questionnaire | ||
| Autonomic status | ||
| Glomerular filtration |
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Inclusion Criteria:
Exclusion criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Medical Monitor | Genzyme Coorporation | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cedars-Sinai Medical Center | Los Angeles | California | 90048 | United States | ||
| University of California San Fransisco |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25795794 | Derived | Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. |
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| Functional assessment of urinary protein excretion Ophthalmic changes |
| SF-36 Health Survey |
| Physician's assessment of Fabry Symptoms and pain medication |
| San Francisco |
| California |
| 94143 |
| United States |
| Northwest Oncology & Hematology Associates | Coral Springs | Florida | 33065 | United States |
| Children's Memorial Hospital | Chicago | Illinois | 60614 | United States |
| University of Iowa Hospital and Clinics | Iowa City | Iowa | 52242 | United States |
| Greater Baltimore Medical Center | Baltimore | Maryland | 21204 | United States |
| Beth Israel Deaconess Medical Center | Boston | Massachusetts | 02215 | United States |
| Fetal Diagnostic and Imaging Center | Billings | Montana | 59101 | United States |
| University of New Mexico | Albuquerque | New Mexico | 87131 | United States |
| Mount Sinai School of Medicine | New York | New York | 10029 | United States |
| University of Rochester School of Medicine | Rochester | New York | 14642 | United States |
| Hart Family Practice | Hickory | North Carolina | 28601 | United States |
| Hematology/Oncology Associates of South Texas | San Antonio | Texas | 78229 | United States |
| University of Washington School of Medicine | Seattle | Washington | 98195 | United States |
| Hospital Edouard Herriot | Lyon | Cedex 03 | France |
| Hospital Europeen Georges Pompidou | Paris | Cedex 15 | France |
| Academisch Medisch Centrum | Amsterdam | 1105 AZ | Netherlands |
| University of Puerto Rico | San Juan | 00935 | Puerto Rico |
| National Hospital for Neurology and Neurosurgery | London | WC1N 3BG | United Kingdom |
| Hope Hospital | Manchester | M6 8HD | United Kingdom |
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
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| ID | Term |
|---|---|
| C459420 | agalsidase beta |
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