The purpose of this study is to evaluate the safety and efficacy of ISU302 in patients with Type 1 Gaucher disease.

The objectives of this clinical study were to evaluate the efficacy and safety of every other week (EOW) dosing of ISU302 at a dose of 60 U/kg as an effective glucocerebrosidase enzyme replacement therapeutic product in patients with Type 1 Gaucher disease (GD). Primary efficacy endpoint was the difference in hemoglobin concentration between baseline and Week 24. Secondary efficacy endpoints included assessment of platelet counts, spleen and liver volume, and biomarker levels in plasma at Week 24 compared to baseline; skeletal change and bone mineral density (BMD); and single-dose pharmacokinetic (PK) analysis. Secondary safety endpoints included the assessment of adverse events (AEs), vital signs, physical examination, and electrocardiogram (ECG); clinical safety laboratory analyses included serum chemistry, urinalysis, hematology and coagulation, and the measurement of anti-ISU302 antibodies.

Inclusion Criteria:

• Diagnosis of Type 1 GD.

• Documented glucocerebrosidase deficiency.

• GD-related anemia, defined as hemoglobin levels of at least 1 g/dL below the lower limit of normal for age and gender and one or more of the following 3 criteria:

  • At least moderate splenomegaly (2 to 3 cm below the left costal margin) by palpation,
  • GD-related thrombocytopenia, defined as a platelet count <90 x 109 platelets/L,
  • GD-related readily palpable enlarged liver.

• Not received treatment for GD (investigational products, miglustat, velaglucerase alfa, or imiglucerase) within 12 months prior to study entry.

• Ability to comprehend and willing to sign the ICF.

• Legal guardian (and patient if age appropriate) understood the nature of the procedure, was willing to comply with associated follow-up evaluations, and provided written informed consent and assent prior to the procedure.

• Female patients of childbearing potential must had agreed to use a medically acceptable method of contraception at all the times during the study. Male patients must have used a medically acceptable method of birth control throughout their participation in the study and were required to report the pregnancy of a partner.

Exclusion Criteria:

• Type 2 or 3 GD.
• Splenectomy.
• Antibody positive to ISU302 or imiglucerase during screening or the patient had experienced an anaphylactic reaction to ISU302 or imiglucerase. - Treatment with any non-GD-related investigational drug or medical device within 30 days prior to study entry; such use during the study was also not permitted.
• Currently receiving red blood cell (RBC) growth factor (eg, erythropoietin) chronic systemic corticosteroids or received such treatment within the last 6 months.
• Positive for human immunodeficiency virus (HIV) and hepatitis B or C.
• Exacerbated anemia at screening (due to iron, folic acid, or vitamin B12 deficiency or infectious/immune-mediated cause).
• Significant comorbidity(ies) that could affect study data or confounded the study results (eg, malignancies, primary biliary cirrhosis, autoimmune liver disease).
• Pregnant or lactating female patients and those not willing to use highly effective barrier or medical method of contraception.

2 years and 4 months