Cognitive and Neurological Pathologies in Pompe Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 45
- 试验地点
- 1
- 主要终点
- To determine the involvement of central nervous system (CNS) pathology in long-term survivors of IPD and early diagnosed LOPD patients being treated with enzyme replacement therapy (ERT) as measure by neuroimaging.
研究概览
简要总结
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes.
The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI)), cognition, academic skills, speech and language function, physical therapy and quantitative muscle ultrasound. Subjects will be in this study for at least 3 years and up to 6 years.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)
排除标准
- •Refusal to give informed consent
研究组 & 干预措施
Patients with Pompe disease
结局指标
主要结局
To determine the involvement of central nervous system (CNS) pathology in long-term survivors of IPD and early diagnosed LOPD patients being treated with enzyme replacement therapy (ERT) as measure by neuroimaging.
时间窗: up to 6 years
次要结局
- To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by patient performance report measures.(up to 6 years)
- To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.(up to 6 years)
- To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.(up to 6 years)
- To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by parent report measures.(up to 6 years)
- To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .(up to 6 years)
- To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.(up to 6 years)