Genetics of Familial and Sporadic ALS (ALS)

January 23, 2023 updated by: Teepu Siddique, Northwestern University

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

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 Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

13521

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Northwestern University Feinberg School of Medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Open to all ALS patients and selected family members

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
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
  • Motor Neuron Disease
  • Lou Gehrig's disease
  • neuromuscular disease
  • Frontotemporal dementia
  • Primary Lateral Sclerosis
  • Amyotrophic lateral sclerosis
  • ALS with frontotemporal dementia

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Dec 2025

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Northwestern University

Investigators

  • Principal Investigator: Teepu Siddique, MD, Northwestern University Feinberg School of Medicine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 1991

Primary Completion (Actual)

January 1, 2023

Study Completion (Actual)

January 1, 2023

Study Registration Dates

First Submitted

January 9, 2009

First Submitted That Met QC Criteria

January 12, 2009

First Posted (Estimate)

January 13, 2009

Study Record Updates

Last Update Posted (Estimate)

January 26, 2023

Last Update Submitted That Met QC Criteria

January 23, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Lab01
  • RO1N505641-04 (Other Identifier: NINDS)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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