A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
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ClinicalTrials.gov Identifier: NCT00196716 |
Recruitment Status :
Completed
First Posted : September 20, 2005
Results First Posted : April 2, 2009
Last Update Posted : April 3, 2015
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Fabry Disease | Biological: Fabrazyme (agalsidase beta) | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 21 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (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 |
Study Start Date : | June 2003 |
Actual Primary Completion Date : | April 2006 |
Actual Study Completion Date : | March 2007 |

Arm | Intervention/treatment |
---|---|
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.
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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 |
- Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium [ Time Frame: Throughout study; 96 weeks ]Kidney biopsies were taken at Baseline, Week 24, and Week 96 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
- Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium [ Time Frame: Throughout study ; 96 weeks ]Skin biopsies were taken at Baseline, Week 24, Week 48, Week 72, and Week 96 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
- Estimated Glomerular Filtration Rate (eGFR) [ Time Frame: Throughout study; 96 weeks ]Evaluated at Baseline, Week 24 and Week 96. eGFR is an estimation of the glomerular filtration rate of the kidneys (how much blood the kidneys are filtering). For this study, normal eGFR was defined as greater than 90 mL/min/1.73 m2
- Plasma Globotriaosylceramide (GL-3) [ Time Frame: Throughout study; 96 weeks ]Evaluated at Baseline, Week 24, Week 48, Week 72 and Week 96. Plasma GL-3 is often elevated in the plasma of patients diagnosed with Fabry disease. This outcome measure evaluated the mean plasma GL-3 values for all patients to see if it decreased while on Fabrazyme. Normal plasma GL-3 level was <= 7.03 µg/mL.
- Urine Globotriaosylceramide (GL-3) [ Time Frame: Throughout study, 96 weeks ]Evaluated at Baseline, Week 24 and Week 96. Urine GL-3 is often elevated in the urine of patients diagnosed with Fabry disease. This outcome measure evaluated the mean urine GL-3 in first morning void urine for all patients to see if it decreased while on Fabrazyme. Normal Urine GL-3 threshold was < 8.8 μg/mg.

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Ages Eligible for Study: | 16 Years and older (Child, Adult, Older Adult) |
Sexes 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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00196716
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, a Sanofi Company |
Responsible Party: | Medical Monitor, Genzyme Corporation |
ClinicalTrials.gov Identifier: | NCT00196716 |
Other Study ID Numbers: |
AGAL-017-01 |
First Posted: | September 20, 2005 Key Record Dates |
Results First Posted: | April 2, 2009 |
Last Update Posted: | April 3, 2015 |
Last Verified: | March 2015 |
alpha Galactosidase A aGAL rh aGAL |
Fabry GL3 Fabrazyme |
Fabry Disease 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 Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |