A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease
Condition: Gaucher Disease, Type 1
MeSH terms: Gaucher Disease
Intervention: VPRIV ®,
Intervention description: Intravenous (IV) infusion, every other week via intravenous infusion for 12 months
Phase: Phase 3
Study type: Interventional
Primary purpose: Treatment
Allocation: Randomized
Intervention model: Parallel Assignment
Masking: Double (Participant, Investigator)
Enrollment: 25.0
Sex: All
Minimum age: 2 Years
Healthy volunteers: No
Keywords: VPRIV®; Enzyme Replacement Therapy; Gaucher disease; glucocerebrosidase; beta-glucocerebrosidase; Acid beta-glucocerebrosidase; glucosylceramidase; D-glucosyl-N-acylsphingosine glucohydrolase; gene activation; human

Summary:

      Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme
      glucocerebrosidase (GCB). Due to this deficiency of functional GCB, glucocerebroside
      accumulates within macrophages leading to cellular engorgement, organomegaly, and organ
      system dysfunction. The purpose of this study is to evaluate the efficacy of every other week
      dosing of Gene-Activated® Human Glucocerebrosidase (GA-GCB, velaglucerase alfa) at doses of
      45 and 60 U/kg in treatment-naïve patients with type 1 Gaucher disease.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Patient has a documented diagnosis of type 1 Gaucher disease, as determined by
             deficient glucocerebrosidase (GCB) activity relative to normal as measured in
             leukocytes or by genotype analysis and is willing and able to provide written informed
             consent prior to initiating any study-related procedures

          -  Patient is at least 2 years of age

          -  Patient has Gaucher disease-related anemia and

          -  Patient has at least moderate splenomegaly or

          -  Patient has Gaucher disease-related thrombocytopenia or

          -  Patient has a readily palpable enlarged liver

          -  Patient has not received treatment for Gaucher disease within 30 months prior to study
             entry

          -  Female patients of child-bearing potential agree to use a medically acceptable method
             of contraception. Male patients must agree to use a medically acceptable method of
             birth control.

          -  Patient must be sufficiently cooperative to participate in the study as judged by the
             Investigator.

        Exclusion Criteria:

        Includes:

          -  Patient has type 2 or 3 Gaucher disease or is suspected of having type 3 Gaucher
             disease

          -  Patient is antibody-positive to imiglucerase during screening or has experienced an
             anaphylactic reaction to imiglucerase

          -  Patient has received treatment with any investigational drug or device within the 30
             days prior to study entry

          -  Patient is Human immunodeficiency virus (HIV) positive

          -  Patient is hepatitis positive

          -  Patient presents with iron, folic acid and/or vitamin B12 deficiency sustained anemia
             during screening

          -  Patient, patient's parent(s), or patient's legal guardian(s) is/are unable to
             understand the nature, scope, and possible consequences of the study

          -  Patient has a significant comorbidity(ies)that might affect study data or confound the
             study results

          -  Patient is a pregnant and/or lactating female

          -  Patient is unable to comply with the protocol or is unlikely to complete the study, as
             determined by the Investigator