Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 128
- 试验地点
- 8
- 主要终点
- Collection of clinical data and biomarker samples
研究概览
简要总结
This research study is being performed to better understand a specific form of Amyotrophic Lateral Sclerosis (ALS) caused by a mutation (or abnormality) of the C9ORF72 gene. This mutation is the most common genetic cause of ALS, and is present in 40% of ALS patients with a family history of ALS and 5-10% of ALS patients without a family history of ALS.
详细描述
Individuals diagnosed with ALS, who are confirmed to carry the Chromosome 9 Open Reading Frame 72 (C9ORF72) gene mutation by CLIA-certified lab results, are eligible for enrollment. Researchers want to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression as well as understanding how the size of the hexanucleotide repeat expansion influences disease parameters. The investigators hope that the intense study of patients with the C9ORF72 mutation will ultimately help us develop treatments for this common form of ALS.
Objectives:
- Enroll a total of 120 C9ORF72 ALS participants with known mutation at the time of enrollment.
- Determine the C9ORF72 hexanucleotide repeat expansion size in all subjects
- Define ALS disease course
- Determine to what degree the disease course correlates with expansion size
- Collect biomarker samples (blood, DNA and CSF)
Eligibility:
- Adults over age 18 with known C9ORF72 ALS status
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 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
- 未提供
排除标准
- 未提供
结局指标
主要结局
Collection of clinical data and biomarker samples
时间窗: December 2017
The primary outcome measures will be the collection of clinical data (ALSFRS, ALS-CBS and SVC) to determine rates of disease progression and collection of biomarkers samples (blood, CSF) to be correlated with the clinical measures.
次要结局
- Correlation of repeat expansion size with clinical outcome measures and determination of C9ORF72 patients eligibility for clinical trials(December 2017)
研究者
Timothy M. Miller, MD, PhD
David Clayson Professor of Neurology
Washington University School of Medicine