跳至主要内容
临床试验/NCT00821132
NCT00821132已完成不适用

Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.

Northwestern University1 个研究点 分布在 1 个国家目标入组 13,521 人开始时间: 1991年1月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
13,521
试验地点
1
主要终点
Identification of genes that increase risk for sporadic ALS or cause inherited ALS.

研究概览

简要总结

We are collecting blood samples, clinical and family information from ALS (amyotrophic lateral sclerosis) patients and their families to identify causes of ALS and ALS/dementia.

详细描述

The investigators' long term goals are to improve diagnosis and develop effective treatments that arrest or ameliorate symptoms of ALS, and possibly delay or prevent disease onset in individuals at risk for developing familial ALS (FALS). In order to do this one must understand how disease develops at a molecular level. Identification of genes that increase risk for developing all types of ALS will reveal the pathways of molecular events that are involved in ALS.

The investigators are collecting blood samples, family and medical histories of patients with all types of ALS, (familial and sporadic, with and without frontotemporal dementia, and primary lateral sclerosis and particular family members. Samples are coded to maintain confidentiality. Travel is not necessary.

As well as seeking to identify new genes implicated in ALS, the investigators continue our study of families with known genetic mutations to more fully characterize that disease mechanism.

Linkage analysis and affected relative pair analysis will be used to identify causative FALS genes and disequilibrium analysis and association studies are being done for sporadic ALS.

Results from these studies will provide insight into the underlying disease mechanisms of ALS and provide targets for therapeutic interventions.

研究设计

研究类型
Observational
观察模型
Family Based
时间视角
Other

入排标准

年龄范围
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Patients with Amyotrophic Lateral Sclerosis or ALS and frontotemporal dementia
  • Selected family members, generally brothers and sisters of an ALS patient, the patient's parents

排除标准

  • Under 18 years old

结局指标

主要结局

Identification of genes that increase risk for sporadic ALS or cause inherited ALS.

时间窗: Dec 2025

Study of each identified gene will help us understand the molecular events that produce different types of ALS. This will aid in identification of markers that may be associated with each type which will assist with diagnosis and may provide targets for rational therapy.

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Teepu Siddique

Director, Division of Neuromuscular Medicine

Northwestern University

研究点 (1)

Loading locations...

相似试验