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Genetics of Familial and Sporadic ALS (ALS)

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ClinicalTrials.gov Identifier: NCT00821132
Recruitment Status : Completed
First Posted : January 13, 2009
Last Update Posted : January 26, 2023
Information provided by (Responsible Party):
Teepu Siddique, 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.

Condition or disease Intervention/treatment
Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis ALS With Frontotemporal Dementia (ALS/FTD) Lou Gehrig's Disease Motor Neuron Disease (MND) Primary Lateral Sclerosis (PLS) Sporadic ALS (SALS) Other: Genetic study of ALS families

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.

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Study Type : Observational
Actual Enrollment : 13521 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.
Actual Study Start Date : January 1991
Actual Primary Completion Date : January 2023
Actual Study Completion Date : January 2023

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

Primary Outcome Measures :
  1. 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.

Biospecimen Retention:   Samples With DNA

Whole blood and/or skin and cerebrospinal fluid (CSF) samples

The investigators also collect brain and spinal cord tissue specimens.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Open to all ALS patients and selected family members

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00821132

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United States, Illinois
Northwestern University Feinberg School of Medicine
Chicago, Illinois, United States, 60611
Sponsors and Collaborators
Northwestern University
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Principal Investigator: Teepu Siddique, MD Northwestern University Feinberg School of Medicine
Additional Information:
Publications of Results:
Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium; Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Soraru G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Sacca F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chio A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

Other Publications:

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Responsible Party: Teepu Siddique, Director, Division of Neuromuscular Medicine, Northwestern University
ClinicalTrials.gov Identifier: NCT00821132    
Other Study ID Numbers: Lab01
RO1N505641-04 ( Other Identifier: NINDS )
First Posted: January 13, 2009    Key Record Dates
Last Update Posted: January 26, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Teepu Siddique, Northwestern University:
Additional relevant MeSH terms:
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Amyotrophic Lateral Sclerosis
Motor Neuron Disease
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Frontotemporal Lobar Degeneration
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations