Genetics of Familial and Sporadic ALS

  • STATUS
    Recruiting
  • End date
    Dec 26, 2025
  • participants needed
    15000
  • sponsor
    Northwestern University
Updated on 26 January 2021
dementia
primary lateral sclerosis
frontotemporal dementia
amyotrophic lateral sclerosis

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.

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.

Details
Condition Myelopathy, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Amyotrophic Lateral Sclerosis (ALS), Familial Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis With Frontotemporal Dementia, Spinal Cord Disorders, primary lateral sclerosis, lateral sclerosis, lou gehrig's disease
Treatment Genetic study of ALS families
Clinical Study IdentifierNCT00821132
SponsorNorthwestern University
Last Modified on26 January 2021

Eligibility

Yes No Not Sure

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
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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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