A Study of Fabrazyme in Pediatric Patients With Fabry Disease - Full Text View

Purpose

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 will explore the safety and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

Condition	Intervention	Phase
Fabry Disease	Biological: Fabrazyme (agalsidase beta)	Phase II

Genetics Home Reference related topics:

cholesteryl ester storage disease Fabry disease Farber lipogranulomatosis L1 syndrome long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety Study

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

Further study details as provided by Genzyme:

Primary Outcome Measures:

GL-3 clearance in capillary endothelium in the skin [ Time Frame: Throughout study; 48 weeks ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

Plasma GL-3 [ Time Frame: Throughout study; 48 weeks ] [ Designated as safety issue: No ]

Enrollment:	16
Study Start Date:	October 2002
Study Completion Date:	July 2005
Primary Completion Date:	May 2005 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
1: Experimental Open-label study. All patients received Fabrazyme treatment	Biological: Fabrazyme (agalsidase beta) 1 mg/kg every 2 weeks

Eligibility

Ages Eligible for Study:	7 Years to 15 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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 between age 7 and 15
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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00074958

Locations


United States, Arizona
	University of Arizona
	Tucson, Arizona, United States, 85724

France
	Hopital Europeen Georges Pompidou
	Paris, France, Cedex 15
	Hopital Edouard Herriot
	Lyon, France, Cedex 03
	Hopital de la Timone Enfants
	Marseille, France, Cedex 05

Poland
	Instytut Pomnik Centrum Zdrowia Dziecka
	Warsaw, Poland, 04-730

United Kingdom
	Great Ormond Street Hospital for Sick Children
	London, United Kingdom, WC1N 3JH

Sponsors and Collaborators

Genzyme

Investigators


Study Director:	Bernard Bénichou, M.D.	Genzyme

More Information

US FDA Approved Full Prescribing Information for Fabrazyme® This link exits the ClinicalTrials.gov site

Publications indexed to this study:

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. Epub 2007 Dec 3.

Responsible Party:	Genzyme Corporation ( Medical Monitor )
Study ID Numbers:	AGAL-016-01
First Received:	December 24, 2003
Last Updated:	October 10, 2008
ClinicalTrials.gov Identifier:	NCT00074958
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

a-Galactosidase A

aGal

r-haGAL

Fabry

GL-3

Fabrazyme

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors

Sphingolipidoses

Metabolic Diseases

Lysosomal Storage Diseases

Fabry disease

Sphingolipidosis

Central Nervous System Diseases

Brain Diseases

Metabolism, Inborn Errors

Ceramide trihexosidosis

Genetic Diseases, Inborn

Fabry Disease

Genetic Diseases, X-Linked

Brain Diseases, Metabolic, Inborn

Lipidoses

Metabolic disorder

Lipid Metabolism Disorders

Brain Diseases, Metabolic

Additional relevant MeSH terms:

Lysosomal Storage Diseases, Nervous System

Nervous System Diseases

ClinicalTrials.gov processed this record on November 30, 2008

Sponsored by:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00074958