Early Diagnosis Of Childhood Cerebral Adrenoleukodystrophy
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 1
- 主要终点
- ALD Early Evaluation
研究概览
简要总结
The goal of this single institution study is to evaluate boys with adrenoleukodystrophy (ALD) diagnosed early in life, and to prospectively monitor them to determine parameters that will facilitate earlier detection of the childhood cerebral form of the disease. These at-risk subjects will be assessed yearly through travel to the University of Minnesota, where plasma and cerebral spinal fluid (CSF) biomarker studies, MRI based imaging and neuropsychological assessments will be performed at the University of Minnesota Masonic Children's Hospital and Clinics. The MRI and lumbar puncture to obtain CSF will be obtained under sedation. In addition, at intervening 6 months intervals information will be obtained remotely, including surveys and MRI's in their home location. Also at that time blood samples will be obtained locally and shipped to the University of Minnesota for study. There is no therapeutic intent in this study.
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
- 1 Year 至 5 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Boys with confirmed adrenoleukodystrophy, as determined by very long chain fatty acid (VLCFA) analysis and/or genotyping. Genotyping is not necessary for diagnosis.
- •Between 1 and 5 years of age, inclusive at the time of consent.
- •Able to undergo a sedation
- •English as primary language of the household, to maximize consistency of the neuropsychological/developmental testing.
- •Voluntary written parental/guardian consent
排除标准
- •Evidence of cerebral disease at time of enrollment - patients over 3 years of age must have an MRI within 4 months of signing consent to confirm that there is no evidence of cerebral disease
- •Inability or unwillingness to travel to the University of Minnesota once a year for the duration of the study
- •Evidence of cerebral disease by standard T2/FLAIR MRI. If a subject develops cerebral ALD during the study, they will come off study, as it is anticipated that they would be considered for transplantation.
结局指标
主要结局
ALD Early Evaluation
时间窗: 5 years
To evaluate boys with adrenoleukodystrophy (ALD) diagnosed early in life, and to prospectively determine factors that have a high correlation with the emergence of cerebral ALD.
次要结局
- Emergence of cerebral disease through imaging(5 years)
- Biomarker Study: Inflammation Markers(5 years)
- Biomarker Study: Oxidative Stress(5 years)
- Biomarker Study: Immunologic Activation(5 years)
- Neuropsychology testing(5 years)