Neurobiological Predictors of Huntington's Disease Trial
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 1,700
- 试验地点
- 1
- 主要终点
- Refine the prediction of disease diagnosis (motor conversion)
研究概览
简要总结
The purpose of this trial is to study early brain and behavioral changes in people who have the gene expansion for Huntington's disease, but are currently healthy and have no symptoms.
详细描述
Huntington's Disease (HD) is an inherited disease that causes changes in a person's ability to control movements, thinking, and feelings. The intent of this study is to learn more about the beginning changes in thinking skills, emotional regulation, and brain structure and function as a person begins the transition from health to HD.
Preliminary studies indicate that people with HD may have marked decline before an actual diagnosis. This study will help reveal the earliest indicators of the disease and what factors influence the age at which a person carrying the gene develops the disease. It is necessary to get information on the early stages of HD in order to develop drugs that can slow or postpone the onset of HD. The investigators hope this study will provide essential information for future trials of experimental drugs for HD.
During this study, participants will undergo several detailed tests, including MRI scans of the brain, cognitive assessments, physical exams, bio specimen (blood, urine, cerebral spinal fluid) collection and neurological and psychiatric testing.
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 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •men and women at risk for HD, who have been tested for the HD gene mutation, and who have not been diagnosed with symptoms of HD (CAG ≥36 for CAG-expanded group or CAG <36 for CAG-norm group).
排除标准
- •diagnosis of manifest HD (at least 50% confidence by neurologist that symptoms are present);
- •clinical evidence of unstable medical or psychiatric illness (including substance abuse);
- •history of sever learning disability or mental retardation;
- •history of other CNS disease or event (e.g., seizures or head trauma);
- •current treatment with antipsychotic medications, including the traditional neuroleptics such as haloperidol as well as the atypical antipsychotics risperidone, clozapine, quetiapine, and olanzapine;
- •treatment with phenothiazine-derivative antiemetic medications such as prochlorperazine, metoclopramide, promethazine, and Inapsine on a regular basis (greater than 3 times per month);
- •Specific exclusion criteria for the lumbar puncture:
- •Current use of anti-coagulants
- •Current use of anti-platelets
- •Unable to provide consent for him/herself
结局指标
主要结局
Refine the prediction of disease diagnosis (motor conversion)
时间窗: One year
HD diagnosis will be better predicted by adding longitudinal change to the baseline measures of striatal and white matter volumes, tone-paced and speeded tapping score, stroop interference and motor score.
Characterize disease progression prior to diagnosis.
时间窗: One year
Document change scores for each marker using its slope. Comparisons of change rates across time will suggest measures best suited to clinical trials by large effect sizes and low variability.
Establish possible validity and reliability of disease measures.
时间窗: One year
This will require that we continuously analyze recently collected data, remove items that are insensitive, and add new items to be tested throughout the course of the study. The power and sensitivity of future multi-site trials and studies depend on accurate measures of marker validity. HD diagnosis will be better predicted by UHDRS total motor score following new standardized reliability training and by the tapping task under modified more challenging, conditions. Psychiatric and functional ratings will be improved with item response analyses and dynamic piloting of item edits to establish the most psychometrically sound items for clinical trials.
次要结局
未报告次要终点
研究者
Jordan Schultz
Assistant Professor
University of Iowa