A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00074971
Recruitment Status : Completed
First Posted : December 25, 2003
Last Update Posted : December 4, 2013
Information provided by:

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Fabry Disease Drug: Fabrazyme (agalsidase beta) Phase 3

Study Type : Interventional  (Clinical Trial)
Enrollment : 58 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry Disease
Study Start Date : October 1999
Study Completion Date : December 2004

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Safety and efficacy
  2. Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney

Secondary Outcome Measures :
  1. Changes in McGill Pain Questionnaire
  2. Autonomic status
  3. Glomerular filtration
  4. Functional assessment of urinary protein excretion Ophthalmic changes
  5. SF-36 Health Survey
  6. Physician's assessment of Fabry Symptoms and pain medication

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patients must have successfully completed the previous double-blind study (AGAL-1-002-98)
  • Patients must provide written informed consent prior to study participation
  • Female patients must have a negative pregnancy test prior to each dosing and use a medically accepted method of contraception throughout the study

Exclusion criteria:

  • Patient has undergone kidney transplant or is currently on dialysis
  • Patient is pregnant or lactating
  • Patient is unwilling to comply with the requirements of the protocol
  • Patient has a clinically significant organic disease (with the exception of symptoms related to Fabry disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstances that, in the opinion of the investigator, would preclude participation in the study

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00074971

  Hide Study Locations
United States, California
Cedars-Sinai Medical Center
Los Angeles, California, United States, 90048
University of California San Fransisco
San Francisco, California, United States, 94143
United States, Florida
Northwest Oncology & Hematology Associates
Coral Springs, Florida, United States, 33065
United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
United States, Iowa
University of Iowa Hospital and Clinics
Iowa City, Iowa, United States, 52242
United States, Maryland
Greater Baltimore Medical Center
Baltimore, Maryland, United States, 21204
United States, Massachusetts
Beth Israel Deaconess Medical Center
Boston, Massachusetts, United States, 02215
United States, Montana
Fetal Diagnostic and Imaging Center
Billings, Montana, United States, 59101
United States, New Mexico
University of New Mexico
Albuquerque, New Mexico, United States, 87131
United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
University of Rochester School of Medicine
Rochester, New York, United States, 14642
United States, North Carolina
Hart Family Practice
Hickory, North Carolina, United States, 28601
United States, Texas
Hematology/Oncology Associates of South Texas
San Antonio, Texas, United States, 78229
United States, Washington
University of Washington School of Medicine
Seattle, Washington, United States, 98195
Hospital Edouard Herriot
Lyon, France, Cedex 03
Hospital Europeen Georges Pompidou
Paris, France, Cedex 15
Academisch Medisch Centrum
Amsterdam, Netherlands, 1105 AZ
Puerto Rico
University of Puerto Rico
San Juan, Puerto Rico, 00935
United Kingdom
National Hospital for Neurology and Neurosurgery
London, United Kingdom, WC1N 3BG
Hope Hospital
Manchester, United Kingdom, M6 8HD
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme Coorporation

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Medical Monitor, Genzyme Coporation Identifier: NCT00074971     History of Changes
Other Study ID Numbers: AGAL-005-99
First Posted: December 25, 2003    Key Record Dates
Last Update Posted: December 4, 2013
Last Verified: December 2013

Keywords provided by Sanofi:
a-Galactosidase A

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders