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

Study Purpose:

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.

Study Status:

Not recruiting


Amyotrophic Lateral Sclerosis (ALS) , Familial Amyotrophic Lateral Sclerosis , ALS With Frontotemporal Dementia (ALS/FTD) , Lou Gehrig's Disease , Motor Neuron Disease (MND) , Primary Lateral Sclerosis (PLS) , Sporadic ALS (SALS)

Study Type:


Type of Intervention:


Intervention Name:






Study Chair(s)/Principal Investigator(s):

Teepu Siddique, MD, Northwestern University Feinberg School of Medicine ID:


Neals Affiliated?


Coordinating Center Contact Information

Northwestern University Feinberg School of Medicine

Chicago, Illinois, 60611 United States

Full Study Summary:

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 Sponsor:

Northwestern University

Estimated Enrollment:


Estimated Study Start Date:

01 / 01 / 1991

Estimated Study Completion Date:

01 / 01 / 2023

Posting Last Modified Date:

01 / 26 / 2023

Date Study Added to

01 / 13 / 2009

Minimum Age:

18 Years

Maximum Age:


Can participants use Riluzole?


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

Exclusion Criteria:

- Under 18 years old

Northwestern University Feinberg School of Medicine

Chicago, Illinois 60611
United States