Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Verbal Fluency Score
研究概览
简要总结
Background:
- Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future.
Objectives:
- To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD.
Eligibility:
- Adults over age 18 who have this genetic mutation
Design:
- Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits.
- At each visit, participants will undergo a series of brain, language, and behavior tests. These will include:
- Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain.
- Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid.
<TAB>- Blood samples will be taken.
<TAB>- Participants will be asked to perform several language and movement tests.
<TAB>- Small skin samples will be taken on one visit
- Between visits, participants will answer questions about their health over the phone 3 times.
详细描述
Objective
The primary objective of this study is to characterize the natural history of disease in patients who carry a repeat expansion in the C9ORF72 gene, which causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The secondary objective is to assess whether candidate biomarkers correlate with disease progression.
Study population
62 persons with a documented repeat expansion in C9ORF72 gene who have ALS, ALS-FTD, or FTD or who are carriers of the gene mutation and have a symptomatic family member.
Design
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
- •INCLUSION CRITERIA:
- •Patients will be included if they:
- •Are age 18 or older
- •Have a confirmed repeat expansion in the C9ORF72 gene
排除标准
- •Patients will be excluded if they
- •have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, hereditary diseases, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.
- •require daytime ventilator support at the time of study entry
- •are unable to travel to NIH at the time of study entry
- •are unwilling to have follow-up visits
- •are unable to understand or decline to sign the Informed Consent at the time of study entry. Participants can remain in the study (with DPA consent and participant assent) if they lose consent capacity.
- •have pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) that exclude magnetic resonance imaging
- •have unstable medical conditions that, in the opinion of the investigators, prevent safe participation in this study.
- •are participating in experimental treatment trials at the time of study entry or plan such participation within 6 months of entry.
- •Patients will not be excluded if they are receiving standard care medications for treatment of ALS and its symptoms, or are participating in non-treatment clinical research studies. Patients will be permitted to participate in experimental treatment trials after the 6 month follow-up visit.
- •Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging or transcranial magnetic stimulation.
研究组 & 干预措施
C9ORF72
Participants with C9ORF72 mutation
结局指标
主要结局
Verbal Fluency Score
时间窗: baseline and every 6 months therafter for 3 years
measure of the severity of cognitive function
ALS Functional Rating Scale Revised
时间窗: baseline and every 6 months therafter for 3 years
measure of the severity of motor clinical function
Fronto behavioral Index (FBI)
时间窗: baseline and every 6 months thereafter for 6 years
measure of the severity of behavioral dysfunction
次要结局
未报告次要终点