Completed

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

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What is being tested

Fabrazyme (agalsidase beta)

Biological
Who is being recruted

Fabry Disease
+17

+ Brain Diseases
+ Brain Diseases, Metabolic
From 7 to 15 Years
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 14, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: October 1, 2002Actual 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 14, 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 enrolledTotal 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.

How participants are assigned to different groups/arms
In this clinical study, all participants receive the same treatment. Since there is only one group, there is no need for randomization or assignment to different arms. This type of study is often used to test a new treatment without comparing it to another.

Other Ways to Assign Participants
Randomized allocation: Participants are assigned randomly, like flipping a coin, to ensure fairness and reduce bias.
Non-randomized allocation: Participants are assigned based on specific factors, such as their medical condition or a doctor's decision.

How treatments are given to participants
In this study, all participants receive the same treatment. This approach is often used to evaluate the effects of a single intervention without comparing it to another.

Other Ways to Assign Treatments
Parallel assignment: Participants are split into separate groups, each receiving a different treatment.
Cross-over assignment: Participants switch between treatments during the study.
Factorial assignment: Participants receive different combinations of treatments.
Sequential assignment: Participants receive treatments one after another in a specific order, possibly based on individual responses.
Other assignment: Treatment assignment does not follow a standard or predefined design.

How the effectiveness of the treatment is controlled
In a non placebo-controlled study, no participants receive an inert substance (placebo) to compare outcomes. Instead, all participants receive either the experimental treatment or an alternative treatment (often the Standard of Care). This method allows researchers to compare the effects of the experimental treatment with those of a different active intervention, rather than a placebo.

Other Options
Placebo-Controlled: A placebo is used to compare the effects of the experimental treatment with those of an inert substance, isolating the true treatment effect.

How the interventions assigned to participants is kept confidential
Everyone involved in the study knows which treatment is being given. This is typically used when it's not possible or necessary to hide the treatment details from participants or researchers.

Other Ways to Mask Information
Single-blind: Participants do not know which treatment they are receiving, but researchers do.
Double-blind: Neither participants nor researchers know which treatment is given.
Triple-blind: Participants, researchers, and outcome assessors do not know which treatment is given.
Quadruple-blind: Participants, researchers, outcome assessors, and care providers all do not know which treatment is given.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
From 7 to 15 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Fabry Disease
Brain Diseases
Brain Diseases, Metabolic
Cardiovascular Diseases
Central Nervous System Diseases
Cerebrovascular Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Sphingolipidoses
Vascular Diseases
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lipid Metabolism Disorders
Cerebral Small Vessel Diseases
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

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

1 mg/kg every 2 weeks
Study Objectives
Primary Objectives

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).
Secondary Objectives

Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.

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 ArizonaTucson, United StatesSee the location
Suspended
Hopital Edouard HerriotLyon, France
Suspended
Hopital de la Timone EnfantsMarseille, France
Suspended
Hopital Europeen Georges PompidouParis, France
Completed7 Study Centers