A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
试验速览
- 阶段
- 4 期
- 状态
- 已完成
- 发起方
- 入组人数
- 16
- 试验地点
- 15
- 主要终点
- Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26
研究概览
简要总结
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease.
The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
- •The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
- •The participant has a certain forced vital capacity (FVC) in upright position
- •The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [beta-hCG]) at baseline
排除标准
- •The participant has had previous treatment with ERT
- •The participant is wheelchair dependent
- •The participant requires invasive-ventilation (non-invasive ventilation is allowed)
- •The participant is participating in another clinical study using investigational treatment
- •The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
- •The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study
结局指标
主要结局
Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26
时间窗: Baseline, Week 26
Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.
次要结局
- Glycogen Distribution(Baseline, Week 26)
- Muscle Fiber Morphology(Baseline, Week 26)
- Lysosomal Inclusions(Baseline, Week 26)
- Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26(Baseline, Week 26)
- Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26(Baseline, Week 26)
- Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26(Baseline, Week 26)