An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease

March 3, 2008 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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

This study will evaluate the safety of multiple biweekly intravenous doses of Replagal over 26 weeks in 25 children with Fabry disease and the way in which that agent can improve the health of this patient population. Fabry disease is a genetic disorder inherited as an X-linked recessive trait. It causes a deficiency in the enzyme alpha galactosidase, which normally breaks down a lipid, or fatty substance, called ceramidetrihexosidase, a building block in all cells of the body.

The deficiency in breaking down the lipid eventually causes that lipid to accumulate and injure cells. Problems in the blood vessels, kidneys, heart, and nerves are the result. The disease typically occurs in childhood or adolescence, with repeated episodes of severe pain in the extremities and other symptoms. There is no definitive treatment, but pain management is important in caring for patients with Fabry disease. Although it is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder, Gaucher's disease, have shown that the illness can be reversed if the lipid is removed when an appropriate enzyme, Replagal, is given intravenously. In this study, the gene response of the body's cells to Fabry disease will be described, as will any gene responses that change when the enzyme is used.

Patients 7 to 17 years of age who have Fabry disease may be eligible for this study. They will undergo the following tests and procedures:

  • Physical examination.
  • Neurological examination.
  • Vital signs.
  • Urinalysis.
  • Blood tests to determine complete blood count and chemistries.
  • Questionnaire on pain.
  • Tests pertaining to sweating.
  • Electrocardiogram.
  • Doppler blood flow study.
  • Diary for recording symptoms and the use of pain medications.

Participants will go through the evaluation, over a period of about 5 days, either as an inpatient or outpatient. Participants will receive an intravenous infusion of Replagal every other week, at the dose of 0.2 mg/kg of body weight. Vital signs will be measured before the infusion and immediately and after and 1 hour afterward. There will be careful monitoring for allergic reactions and side effects. The infusion time takes approximately 40 minutes.

This study will last 6 months, with the possibility of being extended another 6 months-a maintenance study in which patients will continue to receive Replagal at the same dose every 2 weeks.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Interventional

Enrollment

25

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institute of Neurological Disorders and Stroke (NINDS)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

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

How is the study designed?

Design Details

  • Primary Purpose: Treatment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2003

Study Completion

June 1, 2005

Study Registration Dates

First Submitted

November 3, 2003

First Submitted That Met QC Criteria

November 3, 2003

First Posted (Estimate)

November 4, 2003

Study Record Updates

Last Update Posted (Estimate)

March 4, 2008

Last Update Submitted That Met QC Criteria

March 3, 2008

Last Verified

June 1, 2005

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 040029
  • 04-N-0029

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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