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Genetics of Familial and Sporadic ALS (ALS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00821132
Recruitment Status : Recruiting
First Posted : January 13, 2009
Last Update Posted : September 18, 2020
Information provided by (Responsible Party):
Teepu Siddique, Northwestern University

Tracking Information
First Submitted Date January 9, 2009
First Posted Date January 13, 2009
Last Update Posted Date September 18, 2020
Study Start Date January 1991
Estimated Primary Completion Date December 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 3, 2013)
Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [ Time Frame: Dec 2019 ]
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.
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetics of Familial and Sporadic ALS
Official Title Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.
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 Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA

Whole blood and/or skin and CSF samples

The investigators also collect brain and spinal cord tissue specimans.

Sampling Method Non-Probability Sample
Study Population Open to all ALS patients and selected family members
  • Amyotrophic Lateral Sclerosis (ALS)
  • Familial Amyotrophic Lateral Sclerosis
  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia
  • Lou Gehrig's Disease
  • Motor Neuron Disease
  • Primary Lateral Sclerosis
Intervention 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
  • ALS with FTD
  • Motor Neuron Disease
  • Lou Gehrig's disease
  • neuromuscular disease
  • Frontotemporal dementia
  • Primary Lateral Sclerosis
  • Amyotrophic lateral sclerosis
Study Groups/Cohorts ALS families
Patients with either inherited or sporadic ALS or PLS and selected family members
Intervention: Other: Genetic study of ALS families
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 12, 2009)
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2025
Estimated Primary Completion Date December 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contact: Nailah Siddique, RN MSN 312 503 2712
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00821132
Other Study ID Numbers Lab01
RO1N505641-04 ( Other Identifier: NINDS )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Teepu Siddique, Northwestern University
Study Sponsor Northwestern University
Collaborators Not Provided
Principal Investigator: Teepu Siddique, MD Northwestern University Feinberg School of Medicine
PRS Account Northwestern University
Verification Date September 2020