Phase 2
N=21
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
Fabry Disease
Bottom Line
View on ClinicalTrials.gov: NCT00196716 ↗Enrolled (actual)
21
Serious AEs
14.3%
Results posted
Apr 2009
Primary outcome: Primary: Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium — 3; 21; 18; 17 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Fabrazyme (agalsidase beta) (Biological)
- Age
- Pediatric, Adult, Older Adult · 16+ yrs
- Sex
- Male
- Sponsor
- Genzyme, a Sanofi Company
- Primary completion
- Apr 2006
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium |
3; 21; 18; 17; 0; 2 | — |
| SECONDARY Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium |
5; 20; 15; 17; 16; 1 | — |
| SECONDARY Estimated Glomerular Filtration Rate (eGFR) |
92.5; 93.1; 92.8 | — |
| SECONDARY Plasma Globotriaosylceramide (GL-3) |
12.24; 5.18; 5.50; 5.64; 6.53 | — |
| SECONDARY Urine Globotriaosylceramide (GL-3) |
221.3; 109.2; 122.5 | — |
Summary
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.
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT00196716). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.