Completed

A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease

What is being tested

Fabrazyme (agalsidase beta)

Biological

Who is being recruted

Fabry Disease+19

+ Brain Diseases

+ Brain Diseases, Metabolic

From 7 to 15 Years

+9 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Treatment Study

Phase 2

Interventional

Study Start: October 2002

See protocol details

Summary

Principal SponsorGenzyme, a Sanofi Company

Last updated: January 27, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: October 1, 2002

Actual date on which the first participant was enrolled.

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.

Official TitleA Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease

NCT00074958

Principal SponsorGenzyme, a Sanofi Company

Last updated: January 27, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

16 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Treatment Study

These studies test new ways to treat a disease, condition, or health issue. The goal is to see if a new drug, therapy, or approach works better or has fewer side effects than existing options.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 7 to 15 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Fabry DiseaseBrain DiseasesBrain Diseases, MetabolicCardiovascular DiseasesCentral Nervous System DiseasesCerebrovascular DisordersLipid Metabolism, Inborn ErrorsLipidosesMetabolic DiseasesMetabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System DiseasesNutritional and Metabolic DiseasesSphingolipidosesVascular DiseasesLysosomal Storage DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornGenetic Diseases, InbornGenetic Diseases, X-LinkedLipid Metabolism DisordersCerebral Small Vessel Diseases

Criteria

5 inclusion criteria required to participate

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

Show More Criteria

4 exclusion criteria prevent from participating

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

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group

Treatment Groups

Group I

Experimental

1.0 mg/kg of Fabrazyme given to the patients every 2 weeks

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 7 locations

Suspended

University of Arizona

Tucson, United StatesOpen University of Arizona in Google Maps

Suspended

Hopital Edouard Herriot

Lyon, France

Suspended

Hopital de la Timone Enfants

Marseille, France

Suspended

Hopital Europeen Georges Pompidou

Paris, France

Completed7 Study Centers