NIH Clinical Research Studies

Protocol Number: 03-N-0286

Active Followup, Protocols NOT Recruiting New Patients

Title:
Study of Weekly Dosing Regimens of Replagal in Patients with Fabry Disease with Incomplete Clinical Response to Long-Term Therapy
Number:
03-N-0286
Summary:
This study will determine the safety and effectiveness of increasing Replagal infusions in certain patients with Fabry disease. Replagal is a genetically engineered form of Alpha-galactosidase A, an enzyme that normally breaks down a fatty substance called globotriaosylceramide (Gb3). In patients with Fabry disease, Alpha-galactosidase A does not function properly and, therefore, Gb3 builds up, causing problems with the kidneys, heart, nerves, and blood vessels.

Patients with Fabry disease who are participating in NIH protocol 00-N-0185 or 02-N-0220 may be eligible for this study. This includes patients who are currently taking Replagal but whose kidney function continues to worsen, or patients who have certain test results that are much improved after Replagal infusion.

Participants will receive Replagal infusions (0.2 mg/kg body weight) through a vein once a week (as opposed to the previous dosage of once every 2 weeks) for up to 2 years. The first infusion, and some others, are given at the NIH Clinical Center, but most are administered by the patient's local doctor. Vital signs are measured before, immediately after, and 1 hour after each infusion.

Baseline evaluations are done on an inpatient basis at the NIH Clinical Center over a 1-week period before and after the first Replagal infusion and at 6-month intervals during the study. Tests include a check of vital signs (temperature, respiratory rate, pulse rate, and blood pressure); weight measurement; physical and neurological examinations; routine blood and urine tests; 24-hour urine collection; electrocardiogram; and review of treatment side effects. In addition, the following tests are done:

- Quantitative sensory testing: This is a non-invasive test to measure the ability to sense warm, cold and vibration in the hand and foot.

- QSART: This test measures the amount of sweat in a particular area of skin that did not sweat enough. A small amount of a medicine called acetylcholine is put on the skin and made to enter the skin using a very small electric current.

- Doppler skin blood flow: This test measures blood flow to the blood vessels of the skin. A machine takes pictures of blood flow in the skin of the forearm using a laser beam. Pictures are taken before and during application of medicines that cause blood vessels to dilate. Acetylcholine is used on one forearm and nitroprusside is used on the other. The medication is made to enter the skin using a small electrical current.

Weekly evaluations are done at every infusion visit. Tests include a check of vital signs, weight measurement, blood tests, and review of drug side effects.

Safety evaluations are done every 3 months, either at NIH or at the local infusing center. Tests include vital sign measurements; physical and neurological examinations, blood and urine tests; and a review of drug side effects.

Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Follow-up Of Previously Enrolled Subjects Only
Gender: Male
Referral Letter Required: Yes
Population Exclusion(s): Female

Children

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
Disease Category:
PROTICD
Keywords:
Lysosomal Storage
Renal Insufficiency
Stroke
Hypohidrosis
Peripheral Neuropathy
Recruitment Keywords:
Fabry Disease
Conditions:
Fabry Disease
Investigational Drug(s):
Replagal
Investigational Device(s):
None

Contacts:
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.

Citations:
Altarescu G, Schiffmann R, Parker CC, Moore DF, Kreps C, Brady RO, Barton NW. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis. 2000 Aug;26(4):285-90.

Brady RO. Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin Chem. 1967 Jul;13(7):565-77. Review. No abstract available.

Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA. 2000 Dec 6;284(21):2771-5. Erratum in: JAMA 2001 Jan 10;285(2):169.

Active Followup, Protocols NOT Recruiting New Patients

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