Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 22
- 试验地点
- 1
- 主要终点
- Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Woodcock-Johnson Test of Achievement.
研究概览
简要总结
The primary purpose of this study is to:
- Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive functioning, academic skills, and speech and language abilities.
- Investigate possible cognitive processing speed weaknesses using BrainBaseline neurocognitive assessment software.
- Investigate the relationship between behavior and other developmental factors including speech and language ability and cognitive ability.
- Explore if the use of selected iPad applications may help strengthen cognitive processing speed in children with Pompe disease
详细描述
The study will last approximately 2-3 years. It includes 2-4 visits to Duke for developmental assessments. The baseline/year 1 visit may take place at Duke (may take 1-2 days) or remotely via iPad. The follow up 1/year 2 visit may take place at Duke (1-2 days) or remotely via an iPad, depending upon each child's particular situation.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age range 6-18 years
- •Diagnosis of classic Pompe disease by enzyme or molecular methods
- •Patient, parent, or legal guardian is willing and able to give written informed consent
- •English speaking child and care giver.
排除标准
- 未提供
结局指标
主要结局
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Woodcock-Johnson Test of Achievement.
时间窗: 2 years
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.
时间窗: 2 years
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by PPVT-4.
时间窗: 2 years
This outcome measure will be tested using measures testing cognitive function.
Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Leiter.
时间窗: 2 years
Document the developmental outcomes and language abilities of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by CELF-5.
时间窗: 2 years
This outcome measure will be tested using measures testing language abilities.
次要结局
- Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P.(2 years)
- Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist.(2 years)
- Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.(2 years)