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Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3
EU CTIS ID: 2024-510751-34-00
What this study is testing
Evaluate the safety and pharmacokinetics of eliglustat in pediatric patients (≥2 to <18 years old).
- Therapeutic confirmatory (Phase III)
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- -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 approved, at the time of enrollment with treatment ongoing at the time of enrollment and the dose stable for at least the 6 months preceding enrollment. Patients must have severe clinical manifestations of GD, as defined by the presence of at least one of the following: -GD related pulmonary disease such as interstitial lung disease (ILD). The diagnosis of ILD must be confirmed by the presence of reticulonodular densities on chest X-ray. AND/OR -Symptomatic bone disease characterized by pathological fracture, osteonecrosis, osteopenia/osteoporosis, or bone crisis occurring in the 12 months prior to enrollment. AND/OR -Persistent thrombocytopenia (<80,000/mm3) related to GD.
You likely can't join if
- -Substrate reduction therapy for GD within 6 months prior to enrollment
- -Partial or total splenectomy if performed within 2 years prior to enrollment
- -The patient is transfusion dependent, a history of esophageal varices or liver infarction, elevated liver enzymes, significant congenital cardiac defect, coronary artery disease or left sided heart failure; clinically significant arrhythmias or conduction defect such as Type 2 second degree or third degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
- -The patient has any clinically significant disease other than GD.
- -The patient has neurological symptoms other than oculomotor apraxia at study entry.
- -The patient has received an investigational product within 30 days prior to enrollment.
See the full eligibility criteria
Who can join
- -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 approved, at the time of enrollment with treatment ongoing at the time of enrollment and the dose stable for at least the 6 months preceding enrollment. Patients must have severe clinical manifestations of GD, as defined by the presence of at least one of the following: -GD related pulmonary disease such as interstitial lung disease (ILD). The diagnosis of ILD must be confirmed by the presence of reticulonodular densities on chest X-ray. AND/OR -Symptomatic bone disease characterized by pathological fracture, osteonecrosis, osteopenia/osteoporosis, or bone crisis occurring in the 12 months prior to enrollment. AND/OR -Persistent thrombocytopenia (<80,000/mm3) related to GD.
What rules you out
- -Substrate reduction therapy for GD within 6 months prior to enrollment
- -Partial or total splenectomy if performed within 2 years prior to enrollment
- -The patient is transfusion dependent, a history of esophageal varices or liver infarction, elevated liver enzymes, significant congenital cardiac defect, coronary artery disease or left sided heart failure; clinically significant arrhythmias or conduction defect such as Type 2 second degree or third degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
- -The patient has any clinically significant disease other than GD.
- -The patient has neurological symptoms other than oculomotor apraxia at study entry.
- -The patient has received an investigational product within 30 days prior to enrollment.
- -The patient is unable to receive treatment with imiglucerase due to a known hypersensitivity or is unwilling to receive imiglucerase treatment every 2 weeks.
- -The patient has a known hereditary galactose intolerance, Lapp lactase deficiency or glucose galactose malabsorption, or is a CYP2D6 ultra-rapid metabolizer or indeterminate metabolizer.
The study team makes the final eligibility decision.
Where it's taking place
- Japan
- Russian Federation
- Canada
- Turkey
- Argentina
- United Kingdom
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Japan; Russian Federation; Canada; Turkey; Argentina; United Kingdom. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.