A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
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People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because alpha-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This trial is designed to evaluate the efficacy of a lower dose of Fabrazyme in patients who initially received 1.0 mg/kg every 2 weeks of Fabrazyme by investigating if the achieved clearance of glycosphingolipid deposits in the vascular endothelium of the kidney can be maintained at a lower dose.
Condition | Intervention | Phase |
---|---|---|
Fabry Disease |
Biological: Fabrazyme (agalsidase beta) |
Phase 2 |
Study Type: | Interventional |
Study Design: | Allocation: Non-Randomized Endpoint Classification: Safety/Efficacy Study Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Treatment |
Official Title: | A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease |
- Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium [ Time Frame: Throughout study; 96 weeks ] [ Designated as safety issue: No ]
- Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium [ Time Frame: Throughout study ; 96 weeks ] [ Designated as safety issue: No ]
- Estimated Glomerular Filtration Rate (eGFR) [ Time Frame: Throughout study; 96 weeks ] [ Designated as safety issue: No ]
- Plasma Globotriaosylceramide (GL-3) [ Time Frame: Throughout study; 96 weeks ] [ Designated as safety issue: No ]
- Urine Globotriaosylceramide (GL-3) [ Time Frame: Throughout study, 96 weeks ] [ Designated as safety issue: No ]
Enrollment: | 21 |
Study Start Date: | June 2003 |
Study Completion Date: | March 2007 |
Primary Completion Date: | April 2006 (Final data collection date for primary outcome measure) |
Arms | Assigned Interventions |
---|---|
Experimental: Fabrazyme
Open-label study. Patients received 1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months.
|
Biological: Fabrazyme (agalsidase beta)
1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months
Other Name: r-hαGAL
|
Ages Eligible for Study: | 16 Years and older |
Genders Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Have clinical manifestations of Fabry disease
- All patients have to have a plasma αGAL activity of < 1.5 nmol/hr/mL or a documented leukocyte αGAL activity of < 4 nmol/hr/mg
- Patient or patient's parent/guardian had to provide written informed consent prior to any study-related procedures being performed
- Patients had to be male and ≥ 16 years of age
Exclusion Criteria:
- There is evidence of renal insufficiency, as defined by serum creatinine greater than or equal to 2.2 mg/dL (194.7 μmol/L) AND/OR has an estimated glomerular filtration rate (GFR) of <80 mL/min (using the equation derived from the Modification of Diet in Renal Disease Study (MDRD))
- Has undergone kidney transplantation or is currently on dialysis
- Has a clinically significant organic disease or an unstable condition (with the exception of symptoms relating to Fabry disease) that in the opinion of the Investigator would preclude participation in the trial
- Has participated in a study employing an investigational drug within 30 days of the start of this trial
- Patients who received prior treatment with enzyme replacement therapy for Fabry disease
- Patient was unable to comply with the requirements of the protocol
Czech Republic | |
II. interní klinika 1. LF UK | |
Praha 2, Czech Republic, 128 02 | |
Estonia | |
Tartu University Clinics, Department of Internal Medicine | |
Tartu, Estonia, 51014 | |
Poland | |
Klinika Chorob Metabolicznych, Instytut "Pomnik-Centrum Zdrowia Dziecka" | |
Warsaw, Poland, 04-736 | |
Slovakia | |
Detská fakultná nemocnica Kramáre I. Interná klinika | |
Bratislava 37, Slovakia, 833 40 |
Study Director: | Medical Monitor | Genzyme |
No publications provided
Responsible Party: | Medical Monitor, Genzyme Corporation |
ClinicalTrials.gov Identifier: | NCT00196716 History of Changes |
Other Study ID Numbers: | AGAL-017-01 |
Study First Received: | September 12, 2005 |
Results First Received: | December 5, 2008 |
Last Updated: | August 11, 2009 |
Health Authority: | Estonia: The State Agency of Medicine Czech Republic: State Institute for Drug Control Poland: Office for Registration of Medicinal Products, Medical Devices and Biocidal Products Slovakia: State Institute for Drug Control |
Keywords provided by Genzyme:
alpha Galactosidase A aGAL rh aGAL |
Fabry GL3 Fabrazyme |
Additional relevant MeSH terms:
Fabry Disease Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |
ClinicalTrials.gov processed this record on October 16, 2012