Genetics of Familial and Sporadic ALS

Sponsor

Northwestern University (Other)

Overall Status

Recruiting

CT.gov ID

NCT00821132

Collaborator

(none)

15,000

Enrollment

Location

419

Duration (Months)

35.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia Lou Gehrig's Disease Motor Neuron Disease Primary Lateral Sclerosis	Other: Genetic study of ALS families

Detailed Description

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

15000 participants

Observational Model:

Family-Based

Time Perspective:

Other

Official Title:

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

Study Start Date :

Jan 1, 1991

Anticipated Primary Completion Date :

Dec 1, 2025

Anticipated Study Completion Date :

Dec 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
ALS families Patients with either inherited or sporadic ALS or PLS and selected family members	Other: Genetic study of ALS families Collection and analysis of genetic material, medical and family histories from families with ALS Other Names: familial ALS sporadic ALS genetics of ALS ALS with FTD Motor Neuron Disease Lou Gehrig's disease neuromuscular disease Frontotemporal dementia Primary Lateral Sclerosis Amyotrophic lateral sclerosis

Arm

Intervention/Treatment

ALS families

Patients with either inherited or sporadic ALS or PLS and selected family members

Other: Genetic study of ALS families

Collection and analysis of genetic material, medical and family histories from families with ALS

Other Names:

familial ALS

sporadic ALS

genetics of ALS

ALS with FTD

Motor Neuron Disease

Lou Gehrig's disease

neuromuscular disease

Frontotemporal dementia

Primary Lateral Sclerosis

Amyotrophic lateral sclerosis

Outcome Measures

Primary Outcome Measures

Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [Dec 2019]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

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