Amyotrophic Lateral Sclerosis (ALS) Families Project
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Time to emergence of symptoms attributable to gene mutations
研究概览
简要总结
This program provides family members of individuals with familial ALS the opportunity to contribute to research focused on learning more about why motor neuron degeneration begins and how or why it progresses. This study provides genetic counseling and testing to help participants understand and manage their risk and determine if they want to learn their genetic status. This study will follow unaffected ALS gene mutation carriers on an annual basis to gather essential information that will ultimately help researchers develop novel therapies for the prevention and treatment of ALS.
详细描述
Approximately 10% of people with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's Disease, have a family history of ALS or a related condition called frontotemporal dementia (FTD). In most of these familial cases, and a significant number of "sporadic" patients with no family history, a mutation is present in one of a growing number of genes that have been associated with ALS and/or FTD.
The ALS Families Project will study unaffected carriers of ALS/FTD-associated gene mutations to investigate the first steps in the disease process that leads to motor neuron degeneration, with the goal of identifying early disease targets and points of intervention to slow or stop disease onset and progression.
Unaffected individuals who have either a family member with a known ALS/FTD-associated gene mutation or have a strong family history of ALS and FTD are invited to participate in the ALS Families Project. For those who enroll, research visits will occur every 6-12 months.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 105 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Men or women of any race or ethnicity aged 18 or older
- •No symptoms of ALS or fronto-temporal dementia at enrollment
- •Scenario 1: has already had genetic testing that identified an ALS-spectrum gene mutation.
- •Scenario 2: has a first degree relative who was/is an obligate carrier of a familial ALS-spectrum gene mutation.
- •Scenario 3: has a first degree relative who has/had an ALS-spectrum diagnosis who had a confirmed ALS-spectrum gene mutation or comes from a family with a high burden of ALS-spectrum diagnoses and a known ALS-spectrum gene mutation.
- •Scenario 4: is deemed to be at high risk for carrying an ALS-spectrum gene mutation as judged by a review of the family structure and genetic information by the study team.
- •Willing to undergo genetic analysis, with option of whether or not to learn results
- •Willing to travel to Columbia University Irving Medical Center (CUIMC) every 6-24 months for study procedures
- •Capable of providing informed consent and following study procedures, or has a legally authorized representative who is able to consent for the subject.
排除标准
- •for participation in biosample portion of the study:
- •Known HIV
- •Known hepatitis B
- •Known hepatitis C
结局指标
主要结局
Time to emergence of symptoms attributable to gene mutations
时间窗: Up to 10 years
Emergence of symptoms will defined by the development of any of the following: a) any weakness on neurological examination, b) evidence of nerve loss on electromyography (EMG)-nerve conduction studies, or c) evidence of cognitive impairment on the ECAS or ALS-Cognitive Behavioral Scale (ALS-CBS).
次要结局
未报告次要终点