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Phase 2 N=16 Treatment

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

Fabry Disease

Enrolled (actual)
16
Serious AEs
6.3%
Results posted
Jun 2009
Primary outcome: Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
Fabrazyme (agalsidase beta) (Biological)
Age
Pediatric · 7+ yrs
Sex
All
Sponsor
Genzyme, a Sanofi Company
Primary completion
May 2005

Outcome Measures

OutcomeResultp-value
PRIMARY
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
2; 14; 5; 0; 0; 0
SECONDARY
Plasma GL-3
15.4; 4.9; 14.1; 5.5; 3.6; 5.2

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.

Eligibility Criteria

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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00074958). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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