A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
Condition: Fabry Disease
MeSH terms: Fabry Disease
Intervention: Fabrazyme (agalsidase beta)
Intervention description: 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
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 21.0
Sex: Male
Minimum age: 16 Years
Healthy volunteers: No
Keywords: alpha Galactosidase A; aGAL; rh aGAL; Fabry; GL3; Fabrazyme

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