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

NCT00357786 | Completed Phase 1

• 2 other identifiers: 04002704-N-0027
• Study Type: interventional
• Target: 3
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Keywords

Lysosomal Disease; Glycolipid; Stroke; Peripheral Neuropathy; Storage Disorder

Outcome Measures

Primary Outcomes (1)

• Kidney function

  3 years

Study Arms (1)

A

EXPERIMENTAL

Enzyme replacement for Fabry's Disease

Drug: Replagal agalsidase alfa; Drug: Replagal

Interventions

Replagal agalsidase alfa DRUG

A

Replagal DRUG

A

Eligibility Criteria

• Age: 39 Years - 45 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

* 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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 6023233 BACKGROUND

• 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.

  PMID: 4204059 BACKGROUND

• 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.

  PMID: 3133979 BACKGROUND

MeSH Terms

Conditions

Fabry Disease; Stroke; Peripheral Nervous System Diseases

Interventions

agalsidase alfa

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Neuromuscular Diseases

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: NIH

Study Record Dates

• First Submitted: July 26, 2006
• First Posted: July 27, 2006
• Study Start: October 1, 2003
• Primary Completion: December 1, 2008
• Last Updated: August 17, 2011

Record last verified: 2008-12

Locations

US (1)