Completed

A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease

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What is being tested

Data Collection

Who is being recruted

Fabry Disease+17

+ Brain Diseases

+ Brain Diseases, Metabolic

See all eligibility criteria
How is the trial designed

Treatment Study

Phase 2
Interventional
Study Start: October 2003
See protocol details

Summary

Principal SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: October 1, 2003

Actual date on which the first participant was enrolled.

The objectives of this clinical trial are to evaluate: 1) the safety of multiple biweekly (i.e. every other week) intravenous (IV) doses of Replagal over 26 weeks in 25 children ages 7-17 years old with Fabry Disease, and 2) the pharmacokinetics of Replagal in this patient population. Safety will be determined by standard clinical and laboratory measurements.

Official TitleA Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease 
NCT00071877
Principal SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
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

25 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.

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 ErrorsNervous System DiseasesSphingolipidosesVascular DiseasesLysosomal Storage DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornGenetic Diseases, InbornGenetic Diseases, X-LinkedLipid Metabolism DisordersCerebral Small Vessel Diseases

Criteria

INCLUSION CRITERIA: Male hemizygote with Fabry Disease as documented by clinical evidence and by laboratory evidence of alpha-galactosidase A deficiency. Or Female heterozygote with Fabry Disease as documented by gene analysis showing a mutation of the alpha-galactosidase A gene. Female patients of child-bearing potential must have a negative pregnancy test at baseline and agree to the use of effective contraception such as oral contraceptive or double barrier method for study entry and while participating in the study. 7-17 years of age. Adequate general health (as determined by the investigators) to undergo the specified phlebotomy regimen and protocol related procedures. The child must assent to participate in the protocol and the parent(s) or legally authorized guardian(s) must have voluntarily signed an Institutional Review Board/Independent Ethics Committee (IRB/IEC) approved informed consent form after all relevant aspects of the study have been explained and discussed with the child and the child's parent(s) or legal guardian(s). EXCLUSION CRITERIA: Patient has previously participated in a multi-dose clinical study of an investigational therapeutic agent for Fabry Disease. Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the study. Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures, inability to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator or the medical monitor.

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 1 location

Suspended

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, United StatesSee the location
CompletedOne Study Center