An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease

NCT ID: NCT00357786

Last Updated: 2011-08-17

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE1
• Total Enrollment: 3 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2003-10-31

Brief Summary

This study will continue to evaluate the safety of using intravenous doses of Replagal for two patients with Fabry disease. 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 ceramidetrihexoside, 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. Vascular, renal, and neurological problems are the results. It is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder.

Two patients 7 to 17 years of age who have Fabry disease and have been receiving intravenous infusions of Replagal at a dose of 0.2 mg/kg of body weight every 2 weeks may be eligible for this study.

Participants will undergo the following tests and procedures:

• Physical examination.
• Neurological examination.
• Medical and medication history.
• Vital signs.
• Assessment of height and weight.
• Blood tests to determine complete blood count and chemistries.
• Electrocardiogram.
• Doppler blood flow study.

Participants will go through a baseline evaluation, over a period of about 1 day. They 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 at least 1 year, or until the sponsor doing the investigating or the drug manufacturer decides to withdraw support of the study.

Detailed Description

Objectives: This goal of this study is to continue treating two patients with Fabry disease using enzyme replacement therapy (ERT) using Replagal (agalsidase alfa) at a dose of 0.2 mg/kg of body weight administered every 2 weeks. Study Population: Two patients with Fabry disease who are currently on clinical research protocols 00-N-0185/TKT011 or 02-N-0220/TKT015 and who are stable on ERT. Design: This is an open label study. Outcome Measures: Mainly safety parameters will be obtained. Study duration is estimated to be 2 years.

Conditions

Fabry Disease

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

A

Enzyme replacement for Fabry's Disease

Group Type: EXPERIMENTAL

Replagal agalsidase alfa

Intervention Type: DRUG

Replagal

Intervention Type: DRUG

Interventions

Replagal agalsidase alfa

Intervention Type: DRUG

Replagal

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

• Patients are under direct care of PI and have previously been treated with Replagal under TKT, Inc. sponsored study numbers 02-N-0220/TKT/010/015.

• Minimum Eligible Age: 39 Years
• Maximum Eligible Age: 45 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: lead

Responsible Party

National Institutes of Health

Locations

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, United States

Countries

United States

References

Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101. No abstract available.

Reference Type: BACKGROUND

PMID: 6023233 (View on PubMed)

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. doi: 10.1136/jnnp.36.6.1053.

Reference Type: BACKGROUND

PMID: 4204059 (View on PubMed)

Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.

Reference Type: BACKGROUND

PMID: 3133979 (View on PubMed)

Other Identifiers

04-N-0027

Identifier Type: -

Identifier Source: secondary_id

040027

Identifier Type: -

Identifier Source: org_study_id