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

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

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 explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

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

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

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Fabry disease Farber lipogranulomatosis Schindler disease succinic semialdehyde dehydrogenase deficiency

U.S. FDA Resources

Further study details as provided by Genzyme:

Primary Outcome Measures:

Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin [ Time Frame: Baseline, Week 24 and Week 48 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

Plasma GL-3 [ Time Frame: Baseline, Week 24 and Week 48 ] [ 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
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

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 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

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

Investigators

Study Director:

Medical Monitor

Genzyme

More Information

No publications provided by Genzyme

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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:	Medical Monitor, Genzyme Corporation
ClinicalTrials.gov Identifier:	NCT00074958 History of Changes
Other Study ID Numbers:	AGAL-016-01
Study First Received:	December 24, 2003
Results First Received:	March 3, 2009
Last Updated:	August 11, 2009
Health Authority:	United States: Food and Drug Administration

Keywords provided by Genzyme:

a-Galactosidase A
aGal
r-haGAL

Fabry
GL-3
Fabrazyme

Additional relevant MeSH terms:

Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases

Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on February 12, 2012