Genetics of Familial and Sporadic ALS

Completed

• Conditions: ALS With Frontotemporal Dementia (ALS/FTD); Sporadic ALS (SALS); Motor Neuron Disease (MND); Primary Lateral Sclerosis (PLS); Amyotrophic Lateral Sclerosis (ALS); Familial Amyotrophic Lateral Sclerosis; Lou Gehrig's Disease
• Interventions: Other: Genetic study of ALS families

• Registration Number: NCT00821132
• Lead Sponsor: Northwestern University

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.

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 Timeline

• Study Start: 1991-01
• Study First Submitted: 2009-01-09
• Study First Submitted QC: 2009-01-12
• Study First Posted: 2009-01-13
• Status Verified: 2023-01
• Primary Completion: 2023-01
• Study Completion: 2023-01
• Last Update Submitted: 2023-01-23
• Last Update Posted: 2023-01-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 13521

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
ALS families	Genetic study of ALS families	Patients with either inherited or sporadic ALS or PLS and selected family members

Primary Outcome Measures

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

Trial Locations

Locations (1)

Northwestern University Feinberg School of Medicine; 🇺🇸 Chicago, Illinois, United States