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Genetics of Familial and Sporadic ALS (ALS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by Northwestern University
Information provided by (Responsible Party):
Teepu Siddique, Northwestern University Identifier:
First received: January 9, 2009
Last updated: March 21, 2016
Last verified: March 2016
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 Intervention
Amyotrophic Lateral Sclerosis (ALS)
Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia
Lou Gehrig's Disease
Motor Neuron Disease
Primary Lateral Sclerosis
Other: Genetic study of ALS families

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.

Resource links provided by NLM:

Further study details as provided by Northwestern University:

Primary Outcome Measures:
  • Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [ Time Frame: Dec 2019 ] [ Designated as safety issue: No ]
    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 CSF samples

The investigators also collect brain and spinal cord tissue specimans.

Estimated Enrollment: 15000
Study Start Date: January 1991
Estimated Study Completion Date: December 2022
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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 FTD
  • Motor Neuron Disease
  • Lou Gehrig's disease
  • neuromuscular disease
  • Frontotemporal dementia
  • Primary Lateral Sclerosis
  • Amyotrophic lateral sclerosis

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Genders Eligible for Study:   Both
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00821132

Contact: Nailah Siddique, RN MSN 312 503 2712
Contact: Lisa Kinsley, MS CGC 312 503 0154

United States, Illinois
Northwestern University Feinberg School of Medicine Recruiting
Chicago, Illinois, United States, 60611
Principal Investigator: Teepu Siddique         
Sponsors and Collaborators
Northwestern University
Principal Investigator: Teepu Siddique, MD Northwestern University Feinberg School of Medicine, Division of Neuromuscular Medicine
  More Information

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, Sorarù 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, Saccà 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, Chiò 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.

Responsible Party: Teepu Siddique, Director, Division of Neuromuscular Medicine, Northwestern University Identifier: NCT00821132     History of Changes
Other Study ID Numbers: Lab01  RO1N505641-04 
Study First Received: January 9, 2009
Last Updated: March 21, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Northwestern University:

Additional relevant MeSH terms:
Motor Neuron Disease
Pick Disease of the Brain
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Metabolic Diseases
Speech Disorders
Language Disorders
Communication Disorders
Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Aphasia, Primary Progressive
Pathologic Processes
TDP-43 Proteinopathies
Proteostasis Deficiencies
Frontotemporal Lobar Degeneration
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms processed this record on October 20, 2016