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Genomic Translation for Amyotrophic Lateral Sclerosis Care (GTAC)

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: NCT02795897
Recruitment Status : Recruiting
First Posted : June 10, 2016
Last Update Posted : August 28, 2019
ALS Association
Information provided by (Responsible Party):
Matthew Harms, Columbia University

Brief Summary:
The purpose of this study is to look for abnormal genes and gene expression profiles that help determine why a person develops amyotrophic lateral sclerosis (ALS) and related motor neuron diseases (MND) and why their symptoms present and progress with a particular pattern.

Condition or disease

Detailed Description:

In all patients, ALS/MND is caused by the progressive death of motor neurons. However, every patient is affected differently. Some develop symptoms in their 80's while others get sick in adolescence. Swallowing/speech are affected first in some patients, but most have weakness in their hands or feet at onset. Some individuals show very rapid progression, even as others live for decades. Finally, some patients have loss of mainly motor neurons in the brain (as in primary lateral sclerosis), while others lose mainly lower motor neurons in the spinal cord and brain stem (as in progressive muscular atrophy). Research has uncovered a few genetic factors that contribute to the variability of ALS/MND. For example, mutations in the superoxide dismutase 1 (SOD1) gene makes onset in the legs more likely and decreases the chance of developing dementia. Conversely, having a mutated C9ORF72 gene makes dementia much more likely. Uncovering additional factors causing ALS variability is an important research priority and is likely to provide clues about how to better diagnose and treat the disease.

This study is called "Genomic Translation for ALS Care" (GTAC). The investigators will analyze the genome and gene expression patterns of people with ALS/MND and carry out research on that data, finding insights that the investigators hope will translate into better care for ALS/MND patients.

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Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genomic Translation for Amyotrophic Lateral Sclerosis Care
Actual Study Start Date : June 8, 2016
Estimated Primary Completion Date : September 2019
Estimated Study Completion Date : November 2020

Primary Outcome Measures :
  1. Correlation of DNA genotype with ALS phenotypes [ Time Frame: 36 months ]
    Because subjects are followed over their entire disease course and undergo whole genome sequencing of their DNA, this project will study the distinct features (progression and particular symptoms) of subjects with and without mutations in already known ALS genes.

  2. Correlation of gene expression in blood with ALS phenotypes [ Time Frame: 36 months ]
    Because subjects are followed over their entire disease course and undergo gene expression profiling on their blood sample, this project will study the distinct features (progression and particular symptoms) of subjects with different types of gene expression profiles.

Biospecimen Retention:   Samples With DNA
DNA, RNA and Peripheral blood mononuclear cells (PBMCs)

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with ALS (meeting El Escorial criteria for definite, probable or possible ALS), or primary lateral sclerosis or progressive bulbar/muscular atrophy.

Inclusion Criteria:

Study participants meeting all of the following criteria will be eligible for enrollment in GTAC:

  1. Men or women of any race or ethnicity aged 18 or older
  2. Diagnosis of familial or sporadic ALS (definite, probable, or possible according to El Escorial Criteria, Appendix 1), or those with primary lateral sclerosis or progressive bulbar/muscular atrophy forms of motor neuron disease. All-comers with ALS/MND should be enrolled without regard to familial vs sporadic or gene mutation status (i.e. participants with known gene mutations should still be enrolled), or phenotype.
  3. Capable of providing informed consent and following study procedures (in the case that a subject lacks the ability to provide informed consent, informed consent will be sought from the subject's surrogate representative).
  4. Willing to return to clinic site (or another participating center) for follow-up care.

Exclusion Criteria:

Study participants meeting any of the following criteria during screening evaluation will be excluded from enrolling in GTAC:

  1. Invasive ventilation (i.e. tracheostomy) in place.
  2. Non-invasive ventilation dependent (defined as >22 hours per day)
  3. Pregnancy.
  4. Known Human Immunodeficiency Virus (HIV) , chronic Hepatitis B, or Hepatitis C (because cells will be frozen down for future cell line generation).

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 identifier (NCT number): NCT02795897

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Contact: ALS Center Research Coordinator 212-305-2202

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United States, California
Cedar Sinai Medical Center Recruiting
Los Angeles, California, United States, 90048
Contact: Carolyn Prina    310-423-1713   
Principal Investigator: Robert Baloh, MD         
United States, Colorado
University of Colorado School of Medicine Recruiting
Aurora, Colorado, United States, 80045
Contact: Kim Klawson-Stone    303-724-4644   
Principal Investigator: Laura Foster, MD         
United States, Michigan
Univeristy of Michigan Recruiting
Ann Arbor, Michigan, United States, 48104
Contact: Blake Swihart    734-936-8775   
Principal Investigator: Stephen Goutman, MD, MS         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Valerie Ferment    612-301-1535   
Principal Investigator: George Manousakis, MD         
United States, Missouri
Washington University Recruiting
Saint Louis, Missouri, United States, 63110
Contact: WU Neuromuscular Clinical Studies Line    314-362-6159   
Principal Investigator: Timothy Miller, MD, PhD         
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: ALS Center Research Coordinator    212-305-2202   
Principal Investigator: Matthew Harms, MD         
United States, North Carolina
Duke University Recruiting
Durham, North Carolina, United States, 27705
Contact: Charles Loughlin    919-668-2836   
Principal Investigator: Richard Bedlack, MD, PhD         
United States, Oregon
Oregon Health & Sciences University Recruiting
Portland, Oregon, United States, 97239
Contact: Diana Dimitrova, PhD    503-494-7269   
Principal Investigator: Chafic Karam, MD         
United States, Pennsylvania
Penn State College of Medicine Recruiting
Hershey, Pennsylvania, United States, 17033
Contact: Dodi Schaak    717-531-0003 ext 280842   
Principal Investigator: Zachary Simmons, MD         
University of Pittsburgh Medical Center Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Danielle Rowlands, MSN    412-864-2873   
Principal Investigator: David Lacomis, MD         
United States, Texas
Houston Methodist Neurological Institute Recruiting
Houston, Texas, United States, 77030
Contact: Sharon Halton    713-441-3420   
Principal Investigator: Stanley Appel, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84112
Contact: Teresa Janecki    801-581-3724   
Principal Investigator: Summer Gibson, MD         
United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Lyndi Hennings    206-543-0454   
Principal Investigator: Leo Wang, MD         
United Kingdom
The University of Edinburgh Recruiting
Edinburgh, United Kingdom
Contact: Siddharthan Chandran, MD    44-0-131-465-9519   
Principal Investigator: Siddharthan Chandran, MD         
Sponsors and Collaborators
Columbia University
ALS Association
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Principal Investigator: Matthew Harms, MD Columbia University
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Responsible Party: Matthew Harms, Assistant Professor of Neurology, Columbia University Identifier: NCT02795897    
Other Study ID Numbers: AAAQ7026
First Posted: June 10, 2016    Key Record Dates
Last Update Posted: August 28, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: The investigators intend to share DNA, sequencing data, and phenotypic data broadly. Participants will be consented for sharing of GTAC data and samples with the Northeast ALS Consortium (NEALS) repository, with others carrying out ALS/MND research (including other consortia), for biomedical research in general (including use as controls and use by for-profit companies), and with Biogen Idec. Additionally, GTAC has plans to share coded genomic and clinical data with Database of Genotypes and Phenotypes (dbGaP) and a ALS/MND consortium for genomic discovery (ASLGEN). This includes sharing of genetic and phenotypic data with Biogen Idec, a pharmaceutical company that is partnering with GTAC to fund the sequencing of samples.
Time Frame: At the end of the study.
Access Criteria: The investigators intend to share DNA, sequencing data, and phenotypic data with the NEALS repository and Biogen Idec. Coded genomic and clinical data will be shared with dbGaP and ASLGEN.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Matthew Harms, Columbia University:
amyotrophic lateral sclerosis (ALS)
primary lateral sclerosis (PLS)
progressive muscular atrophy (PMA)
motor neuron disease
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases