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

This study has been completed.
Information provided by:
Sanofi Identifier:
First received: December 24, 2003
Last updated: December 2, 2013
Last verified: December 2013
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 Intervention Phase
Fabry Disease
Drug: Fabrazyme (agalsidase beta)
Phase 3

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: 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

Resource links provided by NLM:

Further study details as provided by Sanofi:

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

Secondary Outcome Measures:
  • 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

Estimated Enrollment: 58
Study Start Date: October 1999
Estimated Study Completion Date: December 2004

Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
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
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Please refer to this study by its identifier: NCT00074971

  Show 20 Study Locations
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme Coorporation
  More Information

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
Study First Received: December 24, 2003
Last Updated: December 2, 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 processed this record on April 26, 2017