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
Information provided by:

December 24, 2003
December 25, 2003
March 3, 2009
June 16, 2009
April 2, 2015
October 2002
May 2005   (Final data collection date for primary outcome measure)
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).
  • Safety and efficacy without a placebo control group
  • Baseline assessments of plasma GL-3
  • Skin biopsy
  • ECG and GFR
Complete list of historical versions of study NCT00074958 on Archive Site
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.
  • Pain
  • Concomitant pain medication
  • GI symptoms
  • Autonomic neuropathy symptoms
  • Quality of life
  • Pharmacokinetics (Pk)
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A Study of Fabrazyme in Pediatric Patients With Fabry Disease
A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
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.
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Phase 2
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Fabry Disease
Biological: Fabrazyme (agalsidase beta)
1 mg/kg every 2 weeks
Other Name: r-hαGAL
Experimental: Fabrazyme
1.0 mg/kg of Fabrazyme given to the patients every 2 weeks
Intervention: Biological: Fabrazyme (agalsidase beta)
Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
July 2005
May 2005   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
7 Years to 15 Years   (Child)
Contact information is only displayed when the study is recruiting subjects
France,   Poland,   United Kingdom,   United States
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Medical Monitor, Genzyme Corporation
Genzyme, a Sanofi Company
Not Provided
Study Director: Medical Monitor Genzyme, a Sanofi Company
March 2015

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP