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Clinical Trials/NCT00821132
NCT00821132CompletedNot Applicable

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

Northwestern University1 site in 1 country13,521 target enrollmentStarted: January 1991Last updated:
Conditions

Trial Snapshot

Phase
Not Applicable
Status
Completed
Enrollment
13,521
Locations
1
Primary Endpoint
Identification of genes that increase risk for sporadic ALS or cause inherited ALS.

Study Overview

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 Design

Study Type
Observational
Observational Model
Family Based
Time Perspective
Other

Eligibility Criteria

Ages
18 Years to — (Adult, Older Adult)
Sex
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

Exclusion Criteria

  • Under 18 years old

Outcomes

Primary Outcomes

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

Time Frame: 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.

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor Class
Other
Responsible Party
Principal Investigator
Principal Investigator

Teepu Siddique

Director, Division of Neuromuscular Medicine

Northwestern University

Study Sites (1)

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