A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 发起方
- Shire
- 入组人数
- 7
- 试验地点
- 7
- 主要终点
- Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration
研究概览
简要总结
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Gaucher disease has been classified into 3 clinical subtypes based on the presence or absence of neurological symptoms and the severity of these neurological symptoms. Patients with type 2 Gaucher disease present with acute neurological deterioration, and those with type 3 disease typically display a more sub acute neurological course. Type 1 Gaucher disease, the most common form accounting for more than 90% of all Gaucher disease cases, does not involve the central nervous system.
The purpose of this clinical research study is to investigate the safety and effectiveness of velaglucerase alfa in patients with type 3 Gaucher disease.
详细描述
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within the macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. Gaucher disease has been classified into 3 clinical subtypes based on the presence or absence of neurological symptoms and severity of neurological symptoms. Patients with type 2 Gaucher disease present with acute neurological deterioration, and those with type 3 Gaucher disease typically display a more sub acute neurological course; type 1 Gaucher disease, the most common form accounting for more than 90% of all cases, does not involve the central nervous system.
Velaglucerase alfa is an approved enzyme replacement therapy (ERT) for pediatric and adult patients with type 1 Gaucher disease. ERTs have been proven to reduce organomegaly, improve hematological parameters and positively impact health-related quality of life; ERTs have not been shown to cross the blood brain barrier and as a result have shown limited ability to improve the neurological (Central Nervous System; CNS) manifestations associated with Gaucher disease.
This study will provide a basis for exploring the efficacy and safety of velaglucerase alfa in patients with type 3 Gaucher disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Each patient must meet the following criteria to be enrolled in this study.
- •The patient has a confirmed diagnosis of type 3 Gaucher disease.
- •The patient is ≥ 2 and < 18 years of age at the time of enrollment.
- •The patient is either näive to treatment or has not received treatment (investigational or approved) for Gaucher disease within 12 months prior to study entry.
- •The patient has Gaucher disease-related anemia, defined as hemoglobin concentration below the lower limit of normal for age and sex.
- •AND ONE OR MORE OF THE FOLLOWING THREE CRITERIA
- •The patient has at least moderate splenomegaly (2 to 3 cm below the left costal margin) by palpation.
- •The patient has Gaucher disease-related thrombocytopenia, defined as platelet count < 120 x 10,000 platelets/cubic mm.
- •The patient has a Gaucher disease-related readily palpable enlarged liver.
- •Patients who have undergone splenectomy may still be eligible to participate in the study.
- •Female patients of child-bearing potential must agree to use a medically acceptable method of contraception at all times during the study. Pregnancy testing will be performed at the time of enrollment and as required throughout participation in the study. Male patients must agree to use a medically acceptable method of contraception at all times during the study and report a partner's pregnancy to the Investigator.
- •The patient's parent(s) or the patient's legally authorized representative(s) has provided written informed consent that has been approved by the Institutional Review Board/Independent Ethics Committee (IRB/IEC).
排除标准
- •Patients who meet any of the following criteria will be excluded from this study.
- •The patient is suspected of having type 2 or type 1 Gaucher disease.
- •The patient is < 2 years of age.
- •The patient has experienced a severe (Grade 3 or higher) infusion-related hypersensitivity reaction (anaphylactic or anaphylactoid reaction) to any enzyme replacement therapy for Gaucher disease (approved or investigational).
- •The patient has received any non-Gaucher disease-related treatment with an investigational drug within 30 days prior to study entry.
- •The patient is a pregnant and/or lactating female.
结局指标
主要结局
Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration
时间窗: Baseline, Week 53 or end of study
Hemoglobin concentration was measured as part of the hematology panel or measured separately when the hematology panel was not scheduled. Samples were measured by a central laboratory. Baseline is the modified baseline hemoglobin concentration, the average of the values from screening, baseline, and Week 1/Day 1. A positive change from baseline indicates that hemoglobin concentration increased.
次要结局
- Change From Baseline to 12 Months (Week 53) in Platelet Count(Baseline, Week 53)
- Number of Participants Who Experienced a Treatment-Emergent Adverse Event(57 weeks)
- Percent Change From Baseline to 12 Months (Week 51) in Normalized Liver Volume Measured Using Magnetic Resonance Imaging (MRI)(Baseline, Week 51 or end of study)
- Percent Change From Baseline to 12 Months (Week 51) in Normalized Spleen Volume Measured Using Magnetic Resonance Imaging (MRI)(Baseline, Week 51)
- Number of Participants With Abnormal Neurological Status During The Study(Baseline, Weeks 13, 25, 37, and 53 or end of study)
- Number of Participants Who Developed Anti-Velaglucerase Alfa Antibodies During The Study(Baseline, Weeks 13, 25, 37 and 53)