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A Study of Fabrazyme in Pediatric 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: NCT00074958
Recruitment Status : Completed
First Posted : December 25, 2003
Results First Posted : June 16, 2009
Last Update Posted : April 2, 2015
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Brief Summary:
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In people with 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 levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

Condition or disease Intervention/treatment Phase
Fabry Disease Biological: Fabrazyme (agalsidase beta) Phase 2

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 16 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
Study Start Date : October 2002
Primary Completion Date : May 2005
Study Completion Date : July 2005

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arm Intervention/treatment
Experimental: Fabrazyme
1.0 mg/kg of Fabrazyme given to the patients every 2 weeks
Biological: Fabrazyme (agalsidase beta)
1 mg/kg every 2 weeks
Other Name: r-hαGAL

Primary Outcome Measures :
  1. Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin [ Time Frame: Baseline, Week 24 and Week 48 ]
    Skin biopsies were taken at Baseline, Week 24 and Week 48 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).

Secondary Outcome Measures :
  1. Plasma GL-3 [ Time Frame: Baseline, Week 24 and Week 48 ]
    Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria:

  • Patient or legal guardian must provide written informed consent
  • Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms)
  • Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment
  • Patients must be Tanner Stage ≤ III
  • Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study

Exclusion Criteria:

  • Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
  • Patient has participated in a study employing investigational drug within 30 days of the start of this study
  • Patient has received prior treatment with enzyme replacement therapy
  • Patient is unable to comply with the clinical protocol

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): NCT00074958

United States, Arizona
University of Arizona
Tucson, Arizona, United States, 85724
Hopital Edouard Herriot
Lyon, France, Cedex 03
Hopital de la Timone Enfants
Marseille, France, Cedex 05
Hopital Europeen Georges Pompidou
Paris, France, Cedex 15
Instytut Pomnik Centrum Zdrowia Dziecka
Warsaw, Poland, 04-730
United Kingdom
Royal Manchester Children's Hospital
Pendlebury, Manchester, United Kingdom, M27 4HA
Great Ormond Street Hospital for Sick Children
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Medical Monitor, Genzyme Corporation Identifier: NCT00074958     History of Changes
Other Study ID Numbers: AGAL-016-01
First Posted: December 25, 2003    Key Record Dates
Results First Posted: June 16, 2009
Last Update Posted: April 2, 2015
Last Verified: March 2015

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