Primary Objective:
Evaluate the safety and pharmacokinetics of eliglustat in pediatric patients (≥2 to \<18 years old).
Secondary Objective:
Evaluate the efficacy of eliglustat and quality of life in pediatric patients (≥2 to \<18 years old).
Who can participate
Age range2 Years – 17 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria :
* The patient is 2 to \<18 years old at the time of informed consent.
* Male and female patients with a clinical diagnosis of Gaucher disease (GD) type 1 or type 3 with documented deficiency of acid beta-glucosidase activity by enzyme assay and glucocerebrosidase (GBA) genotype.
* Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study. Patients must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use a medically accepted form of contraception throughout the study.
Cohort 1 (Eliglustat monotherapy):
* Patients must have been receiving an enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U/kg to 130 U/kg of Cerezyme® (imiglucerase) with treatment ongoing at the time of enrollment. Patients must be at pre-specified treatment goals, as defined by:
* Hemoglobin level for ages 2 to \<12 years: ≥11.0 g/dL; for ages 12 to \<18 years: ≥11.0 g/dL for females and ≥12.0 g/dL for males;
* Platelet count ≥100,000/mm3;
* Spleen volume \<10.0 multiples of normal (MN);
* Liver volume \<1.5 MN;
* Absence of GD related pulmonary disease, and severe bone disease, as defined below for Cohort 2.
Cohort 2 (Eliglustat plus imiglucerase):
* Patients must have been receiving an ERT for a minimum of 36 months at a dose equivalent to at least 60 U/kg of imiglucerase every 2 weeks, or at the maximum dose locally ap…
What they're measuring
1
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax