A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 发起方
- 入组人数
- 16
- 试验地点
- 14
- 主要终点
- Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
研究概览
简要总结
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.
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
- 7 Years 至 15 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient or legal guardian must provide written informed consent
- •Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms)
- •Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment
- •Patients must be Tanner Stage ≤ III
- •Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study
排除标准
- •Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
- •Patient has participated in a study employing investigational drug within 30 days of the start of this study
- •Patient has received prior treatment with enzyme replacement therapy
- •Patient is unable to comply with the clinical protocol
结局指标
主要结局
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
时间窗: Baseline, Week 24 and Week 48
Skin biopsies were taken at Baseline, Week 24 and Week 48 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
次要结局
- Plasma GL-3(Baseline, Week 24 and Week 48)