A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

Study Overview
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Brief Summary
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People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called glycolipids. These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globatriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study will test the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease.

Official Title
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A Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry Disease

Conditions
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Fabry Disease

Intervention / Treatment
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* Drug: Fabrazyme (agalsidase beta)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients must have successfully completed the previous double-blind study (AGAL-1-002-98) Patients must provide written informed consent prior to study participation Female patients must have a negative pregnancy test prior to each dosing and use a medically accepted method of contraception throughout the study Exclusion criteria: Patient has undergone kidney transplant or is currently on dialysis Patient is pregnant or lactating Patient is unwilling to comply with the requirements of the protocol Patient has a clinically significant organic disease (with the exception of symptoms related to Fabry disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstances that, in the opinion of the investigator, would preclude participation in the study

Ages Eligible for Study
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Minimum Age: 16 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Drug: Fabrazyme (agalsidase beta)|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Safety and efficacy |  |  | 
| Morphologic assessment of GL-3 inclusions in the capillary endothelium (vasculature) of the kidney |  |  | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in McGill Pain Questionnaire |  |  | 
| Autonomic status |  |  | 
| Glomerular filtration |  |  | 
| Functional assessment of urinary protein excretion Ophthalmic changes |  |  | 
| SF-36 Health Survey |  |  | 
| Physician's assessment of Fabry Symptoms and pain medication |  |  | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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aGAL, a-Galactosidase A, r-haGAL, Fabry, GL-3, Fabrazyme