Protocol Number: 04-N-0207

Title:

An Open Label Clinical Trial of Replagal Enzyme Replacement Therapy In Children With Fabry Disease Who Have Completed Study TKT023

Number:

04-N-0207

Summary:

This study will determine the safety and effectiveness of the drug Replagal(registered trademark) for treating people with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called alpha-galactosidase A, which normally breaks down a fatty substance called globotriaosylceramide (Gb3), is missing or does not function properly. The resulting accumulation of Gb3 causes problems with the kidneys, heart, nerves, and blood vessels. Replagal is a genetically engineered form of alpha-galactosidase A.

Patients with Fabry disease who have completed NIH protocol TKT023 may be eligible for this 7-month study extension.

Participants will receive 40-minute intravenous (IV) infusions of Replagal every other week over 29 weeks, with close monitoring during and after the infusions. The effects of the medication will be measured at various time points during the study with the following evaluations: general physical and neurological examinations; quality of life questionnaires; ultrasound blood flow tests; tests of heart function, including electrocardiogram, echocardiogram, and 24-hour Holter monitoring; blood and urine tests; tests for antibodies against Replagal; and measurements of height, weight, and vital signs (blood pressure, pulse, breathing rate, temperature).

Patients who have developed antibodies to Replagal will have blood samples drawn during the final drug infusion to determine how rapidly the drug is removed from the blood stream. For these pharmacokinetic studies, less than a teaspoon of blood will be collected at each of the following time points: immediately before the infusion; 20 minutes into the infusion; at the end of the infusion; after the infusion at 50, 60, and 90 minutes, and 2, 3, 4, and 8 hours.

Thirty days after the last Replagal infusion, patients (or their parents) provide additional information about their health since the last visit.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Completion of study TKT023.

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 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.

Special Instructions: Currently Not Provided

Keywords:

Lysosomes

Storage

Glycolipid

Fabry Disease

Stroke

Recruitment Keywords:

Fabry Disease

Children

Pediatrics

Conditions:

Fabry Disease

Investigational Drug(s):

Replagal (Galactosidase Alfa)

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Brady RO, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163-7. No abstract available. PMID: 6023233

Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1053-62. No abstract available. PMID: 4204059

Kaye EM, et al. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. PMID: 3133979

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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/21/2004