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Genetics of ALS: Identification of Genes With Roles in Familial and Sporadic Amyotrophic Lateral Sclerosis (ALS) and Amyotrophic Lateral Sclerosis (ALS) With Frontotemporal Dementia (FALS)
This study is currently recruiting participants.
Verified by Northwestern University, January 2009
Sponsored by: Northwestern University
Information provided by: Northwestern University
ClinicalTrials.gov Identifier: NCT00821132
  Purpose

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 familial, sporadic ALS or primary lateral sclerosis(PLS)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 SOD1-ALS 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.


Condition Intervention
Amyotrophic Lateral Sclerosis
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

Genetics Home Reference related topics: amyotrophic lateral sclerosis juvenile primary lateral sclerosis
MedlinePlus related topics: Amyotrophic Lateral Sclerosis Dementia Neuromuscular Disorders
U.S. FDA Resources
Study Type: Observational
Study Design: 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.

Further study details as provided by Northwestern University:

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

Whole blood and/or CSF samples

The investigators also have a brain and spinal cord tissue bank.


Estimated Enrollment: 15000
Study Start Date: January 1991
Estimated Study Completion Date: December 2015
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

  Eligibility

Ages Eligible for Study:   18 Years and older
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

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00821132

Contacts
Contact: Sandra Donkervoort, MS 312 503 0154 s-donkervoort@northwestern.edu
Contact: Nailah Siddique, RN MSN 312 503 2712 nsiddique@northwestern.edu

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

Website of Neuromuscular Program at Northwestern University Feinberg School of Medicine  This link exits the ClinicalTrials.gov site

Publications of Results:
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362.
Chen W, Saeed M, Mao H, Siddique N, Dellefave L, Hung WY, Deng HX, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T. Lack of association of VEGF promoter polymorphisms with sporadic ALS. Neurology. 2006 Aug 8;67(3):508-10.
Li YJ, Pericak-Vance MA, Haines JL, Siddique N, McKenna-Yasek D, Hung WY, Sapp P, Allen CI, Chen W, Hosler B, Saunders AM, Dellefave LM, Brown RH, Siddique T. Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Neurogenetics. 2004 Dec;5(4):209-13. Epub 2004 Oct 2.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5.
Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, Rimmler J, Hung W, Schlotter B, Ahmed A, Ben Hamida M, Hentati F, Siddique T. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 1998 Dec;2(1):55-60.
Ajroud-Driss S, Saeed M, Khan H, Siddique N, Hung WY, Sufit R, Heller S, Armstrong J, Casey P, Siddique T, Lukas TJ. Riluzole metabolism and CYP1A1/2 polymorphisms in patients with ALS. Amyotroph Lateral Scler. 2007 Oct;8(5):305-9.
Deng HX, Shi Y, Furukawa Y, Zhai H, Fu R, Liu E, Gorrie GH, Khan MS, Hung WY, Bigio EH, Lukas T, Dal Canto MC, O'Halloran TV, Siddique T. Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria. Proc Natl Acad Sci U S A. 2006 May 2;103(18):7142-7. Epub 2006 Apr 24.
Saeed M, Siddique N, Hung WY, Usacheva E, Liu E, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology. 2006 Sep 12;67(5):771-6. Epub 2006 Jul 5.
Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH Jr. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000 Oct 4;284(13):1664-9.

Responsible Party: Neuromuscular Disorders Program ( Teepu Siddique, MD )
Study ID Numbers: Lab01, RO1 N505641-04, RO1 ES014469-02, RO1 NS046535
Study First Received: January 9, 2009
Last Updated: January 12, 2009
ClinicalTrials.gov Identifier: NCT00821132  
Health Authority: United States: Institutional Review Board

Keywords provided by Northwestern University:
FALS
ALS
ALS/FTD
SOD
SALS
MND
PLS

Study placed in the following topic categories:
Pick Disease of the Brain
Frontotemporal dementia
Spinal Cord Diseases
Brain Diseases
Neurodegenerative Diseases
Aphasia, Primary Progressive
Signs and Symptoms
Neuromuscular Diseases
Mental Disorders
Primary progressive aphasia
Dementia
Motor Neuron Disease
Neurobehavioral Manifestations
Delirium
Speech Disorders
Aphasia
Central Nervous System Diseases
Language Disorders
Sclerosis
Degenerative motor system disease
Motor neuron disease
Cognition Disorders
Amyotrophic lateral sclerosis
Delirium, Dementia, Amnestic, Cognitive Disorders
Amyotrophic Lateral Sclerosis
Neurologic Manifestations
Lou Gehrig's disease
Lobar atrophy of brain
Pick disease of the brain
Communication Disorders

Additional relevant MeSH terms:
Pathologic Processes
Nervous System Diseases

ClinicalTrials.gov processed this record on January 16, 2009