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 - EFC13738

Genzyme Corp.0 个研究点目标入组 69 人开始时间: 2024年3月21日最近更新: 2024年7月22日

适应症

试验速览

阶段: 1 期
状态: 招募中
发起方: Genzyme Corp.
入组人数: 69

研究概览入排标准研究者记录与标识符相似试验

研究概览

简要总结

暂无简介。

研究设计

研究类型: Interventional

入排标准

年龄范围: 0 至 17（—）
性别: All

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 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.

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.

研究者

发起方

Genzyme Corp.

相似试验

进行中（未招募）

1 期

Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Congenital, hereditary and neonatal diseasesMedDRA version: 20.0Level: PTClassification code 10075697Term: Gaucher's disease type ISystem Organ Class: 10010331 - Congenital, familial and genetic disordersMedDRA version: 20.0Level: PTClassification code 10075699Term: Gaucher's disease type IIISystem Organ Class: 10010331 - Congenital, familial and genetic disorders

EUCTR2016-000301-37-SEGenzyme Corporation120

进行中（未招募）

1 期

Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3Congenital, hereditary and neonatal diseasesMedDRA version: 20.0 Level: PT Classification code 10075697 Term: Gaucher's disease type I System Organ Class: 10010331 - Congenital, familial and genetic disordersMedDRA version: 20.0 Level: PT Classification code 10075699 Term: Gaucher's disease type III System Organ Class: 10010331 - Congenital, familial and genetic disorders

EUCTR2016-000301-37-GBGenzyme Corporation120

进行中（未招募）

1 期

EUCTR2016-000301-37-ITGenzyme Corporation120

进行中（未招募）

1 期

Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3

EUCTR2016-000301-37-NLGenzyme Corporation120

进行中（未招募）

1 期

EUCTR2016-000301-37-ESGenzyme Corporation120