NCT04485221已完成不适用
A Natural History Study in Children With a TECPR2 Mutation
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Disease progression
研究概览
简要总结
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
详细描述
A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.
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
- 18 Months 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Written informed consent (and assent where appropriate) before any study procedures take place;
- •Male or female;
- •18 months to 12 years old, at enrollment; and
- •Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
排除标准
- •Subject is unable to comply with study requirements; or
- •Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.
结局指标
主要结局
Disease progression
时间窗: Baseline up to 24 months
This will be monitored through medical history, physical exams, and a neurological exam.
次要结局
- Functional assessment: Gross Motor Function Classification System(Baseline up to 24 months)
- Functional assessment: Gross Motor Function Measure(Baseline up to 24 months)
- Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test(Baseline up to 24 months)
- Functional assessment: Timed Tests(Baseline up to 24 months)
- Functional assessment: Muscular Strength Testing(Baseline up to 24 months)
- Functional assessment: Ankle Dorsiflexion Range of Motion(Baseline up to 24 months)
- Patient Reported Outcomes: Pediatric Quality of Life Inventory(Baseline up to 24 months)
研究者
研究点 (1)
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