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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:
No longer recruiting/follow-up only
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Special Instructions:
Currently Not Provided
- Keyword(s):
-
Lysosomes
-
Storage
-
Glycolipid
-
Fabry Disease
-
Stroke
- Recruitment Keyword(s):
-
Fabry Disease
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Children
-
Pediatrics
- Condition(s):
-
Fabry Disease
- Investigational Drug(s):
-
Replagal (Galactosidase Alfa)
- Investigational Device(s):
- None
- Interventions:
-
Drug: Replagal (Galactosidase Alfa)
- Supporting Site:
-
National Institute of Neurological Disorders and Stroke, Transkaryotic Therapies, Inc.
- Contact(s):
-
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Citation(s):
-
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.
-
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.
-
Kaye EM, et al. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9.
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