Endpoint Enabling Study of Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 112
- 试验地点
- 22
- 主要终点
- Vineland 3
研究概览
简要总结
Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.
详细描述
This is an observational study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in approximately up to 100 patients aged birth to 55 years and diagnosed with cyclin-dependent kinase-like 5 deficiency disorder. Operational performance across age groups and languages will be assessed throughout the study, and Baseline cohort characteristics will be assessed throughout enrollment.
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
- — 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
- •Ages newborn to 55 years old
- •Parent/Caregiver who is willing and capable of providing written informed consent
- •Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study
排除标准
- •Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD).
- •Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate
- •Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study
结局指标
主要结局
Vineland 3
时间窗: Baseline
Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)
时间窗: Baseline
Suitability of this cognition and global development scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Gross Motor Function Measure (GMFM)
时间窗: Baseline
Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Sleep Disturbance Scale for Children (SDSC)
时间窗: Baseline
Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
次要结局
- Correlation between test results and seizure severity.(36 months)
- Correlations between age and test results.(36 months)
- Correlations between gender and test results.(36 months)
- Changes in test results over time.(36 months)