Observational Study of Males With Creatine Transporter Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 50
- 试验地点
- 10
- 主要终点
- Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
研究概览
简要总结
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of performance-based and other measures in the CTD population.
详细描述
This is an observational study designed to determine an appropriate clinical assessment battery for males with CTD, and to evaluate Magnetic resonance spectroscopy (MRS) along with other potential biomarkers. It is designed to explore developmental domains of interest and to examine the feasibility and utility of various neuropsychological assessments to measure domains of interest, and to identify possible endpoints for interventional studies. Study will also explore genotype-phenotype correlations.
Clinical adverse events will be monitored throughout the study.
This study was previously posted by Lumos Pharma, which has been transferred to Ultragenyx in June 2019.
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
- 6 Months 至 65 Years（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
- •Subject is able to complete study-related procedures.
- •Subjects' parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the subject will provide an assent.
排除标准
- •Subject has had status epilepticus within 3 months of screening.
- •Subject is unable to comply with the study procedures or with a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.
结局指标
主要结局
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
时间窗: Month 48
次要结局
未报告次要终点