2024-510751-34-00招募中3 期
Open label, two cohort (with and without imiglucerase), multicenter study to evaluate pharmacokinetics, safety, and efficacy of eliglustat in pediatric patients with Gaucher disease type 1 and type 3
适应症
试验速览
- 阶段
- 3 期
- 状态
- 招募中
- 入组人数
- 23
- 试验地点
- 5
- 主要终点
- Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax ; Maximum concentration (Cmax) of eliglustat in plasma
研究概览
简要总结
Evaluate the safety and pharmacokinetics of eliglustat in pediatric patients (≥2 to <18 years old).
入排标准
- 年龄范围
- 0 years 至 17 years（0-17 Years）
- 接受健康志愿者
- 是
入选标准
- •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
- •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.
排除标准
- •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.
结局指标
主要结局
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax ; Maximum concentration (Cmax) of eliglustat in plasma
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax ; Maximum concentration (Cmax) of eliglustat in plasma
Assessment of PK parameter of eliglustat: AUC ; Area under the plasma eliglustat concentration-time curve (AUC)
Assessment of PK parameter of eliglustat: AUC ; Area under the plasma eliglustat concentration-time curve (AUC)
Adverse Events; Number of adverse events in pediatric patients
Adverse Events; Number of adverse events in pediatric patients
次要结局
- Change in hemoglobin level; Absolute change from baseline for hemoglobin (g/dL) (Cohort 1 patients)
- Change in platelet count; Percent change from baseline for platelet count (Cohort 1 patients)
- Change in liver volume; Percent change from baseline for liver volume (Cohort 1 patients)
- Change in spleen volume; Percent change from baseline for spleen volume (Cohort 1 patients)
- Pulmonary disease improvement; Proportion of patients with improvement in pulmonary disease (Cohort 2 patients)
- Bone disease improvement; Proportion of patients with improvement in bone disease (Cohort 2 patients)
- Thrombocytopenia; Proportion of patients with improvement in thrombocytopenia (Cohort 2 patients)
- Quality of Life; Health-related quality of life will be measured by the Pediatric Quality of Life InventoryTM (PedsQLTM) questionnaires
研究者
Clinical Sciences and Operations
Scientific
Genzyme Corp.
研究点 (5)
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